DOI: 10.1016/j.isci.2026.118109

Resource: (Cell Signaling Technology Cat# 9718, RRID:AB_2118009)

Curator: @scibot

SciCrunch record: RRID:AB_2118009

What is this?

PatientID: 1

KindredID: 1

Case: M, 68Y0M, Ethnicity unknown

DiseaseAssertion: VHL

FamilyInfo: None.

CasePresentingHPOs: HP:0002666; HP:0009711; HP:0000107 (pheochromocytoma, retinal capillary hemangioma, renal cyst)

CaseHPOFreeText: Patient was found observed to have retinal angioma (retinal capillary hemangioma) and a right kidney cortex cyst (30mm). Patient's pheochromocytoma was found incidentally and he remained asymptomatic with steady weight.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET, SDHB, SDHC and SDHD

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P25L (c.74C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 93330 https://www.ncbi.nlm.nih.gov/clinvar/variation/93330/

CAID: N/A

gnomAD: 0.002988 https://gnomad.broadinstitute.org/variant/3-10183605-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: P25L (c.74C>T)

MultipleGeneVariants: N/A

DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

Resource: (Proteintech Cat# 51064-2-AP, RRID:AB_11042321)

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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DOI: 10.1016/j.isci.2026.118103

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What is this?

PatientID: None

KindredID: VHL23

Case: M, 13Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: The patient had one malignant pheochromocytoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/SDHB/SDHC/SDHD

PreviouslyPublished: N/A

SupplementalData: Table 1 of Supplementary

Variant: p.L178P (c.533T>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 428795, https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

CAID: N/A

gnomAD: N/A

VariantEvidence: The patient had LOH found in the BAC array CGH data.

MutationType: missense_variant;transition

CivicName: L178P (c.533T>C)

MultipleGeneVariants: N/A

PatientID: 6

KindredID: 6

Case: F, 29Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: 55 patients treated at Asan Medical Center in Korea treated between January 1995 and February 2013 clinically diagnosed with VHL disease and presenting with pancreatic lesions.

CasePresentingHPOs: HP:0001737, HP:0030405 (pancreatic cysts, pancreatic endocrine tumor)

CaseHPOFreeText: The patient presented with serous cystadenoma and pancreatic endocrine tumour at age 26. She was followed up 35.8 months later when her disease was reported to have progressed.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P86S (c.256C>T)

LegacyVariant:N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 178692 https://www.ncbi.nlm.nih.gov/clinvar/variation/178692/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: P86S (c.256C>T)

MultipleGeneVariants: N/A

Germline mutational data on VHL was gathered from various countries to assess variation in germline mutations that produce disease within different populations. Families were grouped according to three possible outcomes of disease: renal cell carcinoma without pheochromocytoma, renal cell carcinoma with pheochromocytoma, or pheochromocytoma alone. SSCP and denaturing gradient gel electrophoresis identified mutations in 300/469 (63%) of families affected with VHL. This germline familial VHL mutation (Q96P (c.287A>C)) was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 98CA. It was reported in the paper as c.500A>C due to a difference in transcript reference. As reported in Table 3, this mutation is found in VHL families without pheochromocytoma, and with renal cell carcinoma.

GroupID/ KindredID: 3786NCI

DiseaseAssertion: VHL

GroupSize: N/A

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: This germline familial VHL mutation was taken from the National Cancer Institute database, with an unknown number of members belonging to Family ID 3786NCI. Table 4 lists all ID and mutations associated with individuals with pheochromocytoma.

GroupPresentingHPOs: HP:0002666 (pheochromocytoma)

GroupHPOFreeText: Described as a VHL family with pheochromocytoma. Other phenotypes are likely, including renal cell carcinoma, however not detailed here.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: 7728151

SupplementalData: N/A

Variant: p.L178P (c.533T>C)

LegacyVariant: p.L178P (c.746T>C)

CaseProblemVariantFreeText: N/A

ClinVarID: 428795 https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

CAID: N/A

gnomAD: N/A

VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by location between codons 157 and 189.

MutationType: missense_variant; transition

CivicName: L178P (c.533T>C)

MultipleGeneVariants: N/A

PatientID: VHL_3 (tumor ID)

KindredID: 3

Case: M, 37Y0M, Ethnicity Unknown

DiseaseAssertion: Adrenal pheochromocytoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 37Y.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161Q (c.482G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R161Q (c.482G>A)

MultipleGeneVariants: N/A

PatientID: (mother)

KindredID: 2

Case: F, Age unknown, Chinese

DiseaseAssertion: unknown

FamilyInfo: There is a history of non-syndromic familial pheochromocytoma in this patient’s family history as well as a confirmed presence of this same germline mutation in their daughter

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: No clinical manifestations of hereditary syndromes, including MEN2A, MEN2B, VHL, and NF1 were found

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161Q (c.482G>A)

LegacyVariant: p.R161Q (c.695G>A)

CaseProblemVariantFreeText: N/A

ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R161Q (c.482G>A)

MultipleGeneVariants: N/A

Germline mutations in 45 unrelated Japanese VHL patients were determined from blood samples using PCR-SSCP or Southern blot analyses. The authors used the 284 codon ORF previously described by Latif et al., 1993 and this notation was converted to NP_000542. PCR-SSCP or Southern blot analyses of the DNA from family members showed that mutations were segregated with disease phenotype in VHL families, although this data was not shown. Data on the presence of retinal angioma, CNS hemangioblastoma (Hb) renal cell carcinoma (RCC), and pheochromocytoma was available. Case 9 had p.Asn78Ser (c.233A>G) mutation. Three members were affected, and all had retinal capillary hemangioma and CNS hemangioblastoma. Other demographics of the members were not described.

GroupID: 39

Case: Sex Unknown, Age Unknown, Japanese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009711(retinal capillary hemangioma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0010797, HP:0002666, HP:0005584 (hemangioblastoma, pheochromocytoma, renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P86L(c.257C>T)

LegacyVariant: p.P157L (c.470C>T)

CaseProblemVariantFreeText: N/A

ClinVarID: 182977 https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: P86L(c.257C>T)

MultipleGeneVariants: N/A

PatientID: V-1

KindredID: 1

Case: M, 46Y0M, Ethnicity Unknown

DiseaseAssertion: Assumed VHL

FamilyInfo: The patient’s grandmother and two uncles had died with cerebellar hemangioblastoma, although genetic testing was not performed. The patient’s father presented with cerebellar hemangioblastoma, retinal hemangioblastoma, clear cell renal cell carcinoma, and serous cystadenoma at 68Y, adrenal pheochromocytoma at 73Y, and clear cell renal cell carcinoma metastasis in the thyroid at 74Y; he was found to carry the same mutation the patient carried. One of the patient’s sons, a 10Y male, was also found to carry the same mutation as the patient but was asymptomatic. Genealogical inquiry also revealed that the patient was distantly related to a known VHL family; one member, a 47Y male, was previously operated on for CNS hemangioblastoma, RCC and symptomatic pheochromocytoma and was found to carry the same mutation as the proband. Another female member had previously presented with retinal hemangioblastoma before becoming deceased at 37Y. The paper also asserted that the patient’s grandmother and two distant relatives carried the mutation, although genotyping was not performed and phenotypic information was not provided.

CasePresentingHPOs: HP:0009726; HP:0000107; HP:0001737 (Renal tumour, renal cyst, pancreatic cyst)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R82P(c.245G>C)

LegacyVariant: N/A

ClinVarID: 193118, http://www.ncbi.nlm.nih.gov/clinvar/variation/193118

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: R82P(c.245G>C)

MultipleGeneVariants: N/A

PatientID: None

KindredID: 8

Case: M, 8Y0M, Chinese

DiseaseAssertion: Asymptomatic

FamilyInfo: His father had the same VHL mutation and presented with hemangioblastoma, clear cell renal cell carcinoma, and abnormality of the pancreas.

CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0009711, HP:0002666, HP:0030393, HP:0010797, HP:0006770, HP:0001732 (retinal capillary hemangioma, pheochromocytoma, endolymphatic sac tumor, hemangioblastoma, clear cell renal cell carcinoma, abnormality of the pancreas)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.W88* (c.263G>A)

LegacyVariant:N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName:W88*(c.263G>A)

MultipleGeneVariants: N/A

Between 1985 and 2017, the clinical materials of patients with VHL disease were collected from 3 different families. Peripheral blood was obtained from each patient for genetic analysis. The VHL gene was amplified by PCR and mutations were confirmed by bi-directional sequencing. Of 22 patients from 3 VHL pedigrees, 10 exhibited VHL gene mutations (3 genotypes) at the germline level. The genotypes of each of the three families were p.R161Q (c.482G>A), p.N78S (c.233A>G), and p.R167Q (c.500G>A), respectively. Family 2: Male proband was admitted at 24Y to the Second Affiliated Hospital due to paroxysmal headache, dizziness and palpitation with hyperhidrosis. MRI results revealed a mass at the right adrenal gland, multiple renal tumors and multiple cysts in the pancreas. Resection of the right adrenal tumor and the upper pole of the right kidney were performed. 3 years later, the patient underwent bilateral epididymal nodule excision and postoperative pathology confirmed patient suffered from papillary cystadenoma of the bilateral epididymal head. The proband's brother (at age 27Y) presented with multiple masses in both kidneys, multiple cysts in both kidneys, and pancreas and epididymal nodules. The patient underwent laparoscopic right radical nephrectomy. The postoperative pathology results confirmed the patient suffered from multiple RCC in the right kidney. The brother's daughter (5Y) was noted to be a germline carrier without any symptoms.

PatientID: I.2

KindredID: F8

Case: M, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: 6/10 genetically tested family members across two generations were found to harbor the c.340+648T>C and c.340+617C>G germline mutations of the VHL gene. Patient I.2 presented with retinal capillary hemangioma, pheochromocytoma (pheo) and renal cell carcinoma. Patient I.3 presented with CNS hemangioblastoma and pheo. Patient II.1 presented with pheo. Patients II.2, II.6 and II.7 presented with retinal capillary hemangioma.

CasePresentingHPOs: HP:0005584; HP:0009711; HP:0002666 (Renal cell carcinoma, Retinal capillary hemangioma, Pheochromocytoma)

CaseHPOFreeText: Presented with renal cell carcinoma, retinal capillary hemangioma and pheochromocytoma. Tumors detected at ages 15, 46 and 52.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: c.340+617C>G

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 827582, https://www.ncbi.nlm.nih.gov/clinvar/variation/827582/

CAID: N/A

gnomAD: N/A

VariantEvidence: These variants segregated in 6 patients of this family who developed VHL disease and were absent in 4 healthy tested descendants, indicating their presence on a single disease-associated allele. Sequencing of tumor DNA did not display loss of heterozygosity, suggesting that a WT VHL deletion (as observed in classic VHL disease) may not be a prerequisite in cells of patients with this specific VHL genotype.

MutationType: missense_variant;transversion; splice_site_variant

CivicName: c.340+617C>G and c.340+648T>C

MultipleGeneVariants: Germline, VHL, c.340+648T>C

PatientID: None

KindredID: 77

Case: Age, sex ethnicity unknown

DiseaseAssertion: unknown; paper focused only on pheochromocytoma

FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 77

CasePresentingHPOs: Unknown

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V170D (c.509T>A)

CaseProblemVariantFreeText: N/A

LegacyVariant: p.V170D (c.722T>A)

ClinVarID: 625256 https://www.ncbi.nlm.nih.gov/clinvar/variation/625256/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: V170D (c.509T>A)

MultipleGeneVariants: N/A

PatientID: 160

KindredID: 160

Case: Sex Unknown, 14Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009711; HP:0002666; HP:0000107; HP:0001732 (Retinal capillary hemangioma, Pheochromocytoma, Renal cyst, Abnormality of the pancreas)

CaseHPOFreeText: Retinal hemangioblastoma, pheochromocytoma, renal cystic lesion and pancreatic cyst or tumor.

CaseNotHPOs: HP:0006770; HP:0010797 (Clear cell renal cell carcinoma, Hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1, S2 and S3

Variant: p.L178P (c.533T>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 428795, https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

CAID: N/A

gnomAD: N/A

VariantEvidence: Variant noted as c.533C>T/p.L178P which was assumed to be c.533T>C.

MutationType: missense_variant;transition

CivicName: L178P (c.533T>C)

MultipleGeneVariants: N/A

PatientID: 105

KindredID: 105

Case: Sex Unknown, 33Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Family history noted but no details provided.

CasePresentingHPOs: HP:0000107; HP:0009711; HP:0010797; HP:0001732 (Renal cyst, Retinal capillary hemangioma, Hemangioblastoma, Abnormality of the pancreas)

CaseHPOFreeText: CNS hemangioblastoma, pancreatic cyst or tumor, renal cystic lesion and retinal hemangioblastoma.

CaseNotHPOs: HP:0006770; HP:0002666 (Clear cell renal cell carcinoma, Pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1, S2 and S3

Variant: p.P86A (c.256C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 93327, https://www.ncbi.nlm.nih.gov/clinvar/variation/93327/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: P86A (c.256C>G)

MultipleGeneVariants: N/A

PatientID: 1

KindredID: 1

Case: Sex Unknown, 38Y0M, Brazilian (Latino/Admixed American)

DiseaseAssertion: VHL

FamilyInfo: Also belonging to family 1, patients 2 and 3 had VHL diagnoses and phenotypes. Their relation is not clear.

CasePresentingHPOs: HP:0002668, HP:0002666; HP:0030405 (Paraganglioma, pheochromocytoma, pancreatic endocrine tumor)

CaseHPOFreeText: The patient developed PPGL at 38Y of age, and a PNET at 38Y.

CaseNotHPOs: HP:0010797; HP:0005584; HP:0009711; HP:0001737; HP:0000107 (hemangioblastoma, renal cell carcinoma, retinal capillary hemangioma, pancreatic cyst, renal cyst)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G114S (c.340G>A)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 583094 https://www.ncbi.nlm.nih.gov/clinvar/variation/583094/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: G114S (c.340G>A)

MultipleGeneVariants: N/A

In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This missense mutation was found in 4 VHL type 1 family members (family ID 3315), using PCR and SSCP sequencing. The mutation of c.332G>A was referred to in the paper by c.545G>A due to a difference in transcript sequence. 1 of 4 individuals were identified with retinal hemangioblastomas, 2 with CNS hemangioblastomas, and 2 with renal cell carcinoma. This was possibly previously published in PMID 9829911

GroupID: 4480

DiseaseAssertion: assumed VHL

GroupSize: 2

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: Familial VHL stated; 2 family members recorded with this mutation.

GroupPresentingHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma, hemangioblastoma)

GroupHPOFreeText: both (2) members had CNS hemangioblastoma, and 1 member had retinal angioma (hemangioma)

GroupNotHPOs: HP:0002666; HP:0005584 (pheochromocytoma, renal cell carcinoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V166D (c.497T>A)

CaseProblemVariantFreeText: N/A

LegacyVariant: p.L237D (c.710T>A)

ClinVarID: 625254 https://www.ncbi.nlm.nih.gov/clinvar/variation/625254/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: V166D (c.497T>A)

MultipleGeneVariants: N/A

PatientID: III:11

KindredID: 1

Case: F, 75, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: The patient's father (II:3) had a brain tumour at age 53 and died at age 78. The patient's paternal aunt (II:1) died of stomach cancer at age 80. The patient's paternal grandfather died at age 50 due to a brain tumour. The patient had seven siblings, five of whom underwent genetic testing. Two were found to carry the mutation but both were asymptomatic (patient III:2 and III:3). The patient's sister (III:2) had three children all of whom carried the P25L mutation and were asymptomatic (IV:4 and IV:6) except patient IV:2 who presented with a retinal hemangioma and renal cyst. Her niece, (IV:2) had three children and one was found to carry the mutation. The patient's brother (III:3) had six children one of whom died due to clear cell renal carcinoma at age 48 but did not carry the P25L mutation (IV:7). The patient had three unaffected children who did not carry the mutation. Of the 13 family members tested, V:2, IV:4, IV:6, III:3, and III:11 were all found to carry the P25L mutation in the VHL gene. Refer to Figure 1 for pedigree.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: Ongoing clinical follow up of the individuals with P25L over a period of 5 years has continued to show no evidence of additional clinical involvement of VHL disease.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P25L (c.74C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 93330 https://www.ncbi.nlm.nih.gov/clinvar/variation/93330/

CAID: N/A

gnomAD: 0.002988 https://gnomad.broadinstitute.org/variant/3-10183605-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName:P25L (c.74C>T)

MultipleGeneVariants: N/A

Of 246 patients affected with von Hippel-Lindau disease, 64 patients (26%) from 38 families had pheochromocytoma, including 33 newly diagnosed during screening studies and 31 treated before screening at NIH. Germline mutations in the VHL gene were determined from sequencing peripheral blood using PCR, SSCP (single-strand conformation polymorphism), and Southern Blotting. Family 4578 was found with c.233A>G mutation in the VHL gene (legacy notation c.446A>G converted to NM_000551.3). It should be noted that the paper describes the amino acid change to be Asp to Ser but, there is no Asp at position 233. This is assumed to be a mistake, with the correct amino acid change being Asn to Ser. 4/8 had pheochromocytoma, 7/8 had renal cell carcinoma, 5/8 had CNS hemangioblastoma, 3/8 had retinal angiomas and 2/8 had cysts.

KindredID: 21

GroupID: 55

GroupSize: Unknown

GroupNumberMales: Unknown

GroupNumberFemales: Unknown

GroupEthnicity: Unknown

GroupAgeRange: Unknown

DiseaseAssertion: VHL

GroupInfo: Kindred no.21 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. Family history indicates that pheochromocytoma is not present in this kindred.

GroupPresentingHPOs: N/A

GroupHPOFreeText: No phenotypic information is listed for this kindred.

GroupNotHPOs: HP:0002666 (Pheochromocytoma)

GroupNotHPOFreeText: Pheochromocytoma was not observed in any members of the affected patient(s)' family (VHL type 1).

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q195* (c.583C>T)

LegacyVariant: c.796C>T (p.Q266*)

CaseProblemVariantFreeText: N/A

ClinVarID: 428794, https://www.ncbi.nlm.nih.gov/clinvar/variation/428794/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: Q195* (c.583C>T)

MultipleGeneVariants: N/A

atientID: None

KindredID: 15

Case: Sex Unknown, 71Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: All VHL mutation carriers of 18 years or older who underwent surveillance according to Dutch VHL guidelines between 1972 and 2012 in the VHL expertise centers University Medical Center Groningen (UMCG) and University Medical Center Utrecht (UMCU) were included. Patients with VHL-disease subtype 2C (pheochromocytoma only) were excluded.

CasePresentingHPOs: HP:0009711; HP:0006880; HP:0009713; HP:0005584; HP:0030405; HP:0000107; HP:0001737; HP:0002666 (Retinal capillary hemangioma, Cerebellar hemangioblastoma, Spinal hemangioblastoma, Renal cell carcinoma, Pancreatic endocrine tumor, Renal cyst, Pancreatic cysts, Pheochromocytoma)

CaseHPOFreeText: VHL Type 2a/b.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 24132471

SupplementalData: Table 1

Variant: p.V170D (c.509T>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625256, https://www.ncbi.nlm.nih.gov/clinvar/variation/625256/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: V170D (c.509T>A)

MultipleGeneVariants: N/A

Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. 15 patients were found with this missense variant in the VHL gene. The ages of the patients were represented as a range, 16-71Y (mean 45). The phenotypes were presented together: retinal hemangioblastoma, cerebellar hemangioblastoma, spinal cord hemangioblastoma, renal cell carcinoma, pancreatic neuroendocrine tumor, pheochromocytoma, renal cysts, and pancreatic cysts. Family history was not described. This cohort was published later in PMID 31087189.

DOI: 10.1016/j.isci.2026.118099

Resource: (Jackson ImmunoResearch Labs Cat# 109-035-098, RRID:AB_2337586)

Curator: @scibot

SciCrunch record: RRID:AB_2337586

What is this?

DOI: 10.1016/j.isci.2026.118099

Resource: (Sigma-Aldrich Cat# A1543, RRID:AB_257935)

Curator: @scibot

SciCrunch record: RRID:AB_257935

What is this?

DOI: 10.1016/j.isci.2026.118099

Resource: (SouthernBiotech Cat# 4700-05, RRID:AB_2796069)

Curator: @scibot

SciCrunch record: RRID:AB_2796069

What is this?

PatientID: None

KindredID: 39

Case: Sex Unknown, Age Unknown, Japanese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

CaseHPOFreeText: Retinal angioma.

CaseNotHPOs: HP:0005584; HP:0001732; HP:0010797 (Renal cell carcinoma, Abnormality of the pancreas, Hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 8634692

SupplementalData: N/A

Variant: p.P86L (c.257C>T)

LegacyVariant: c.470C>T

CaseProblemVariantFreeText: N/A

ClinVarID: 182977, https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: P86L (c.257C>T)

MultipleGeneVariants: N/A

PatientID: 2b

KindredID: 2

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: An unspecified relative (proband - 2a) had the same mutation with renal cell carcinoma, hemangioblastoma, retinal capillary hemangioma, pancreatic cysts and pancreatic endocrine tumors.

CasePresentingHPOs: HP:0005584; HP:0010797; HP:0009711; HP:0002668; HP:0030405 (renal cell carcinoma; hemangioblastoma; retinal capillary hemangioma; pancreatic cyst; pancreatic endocrine tumor)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: MEN1/ RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.N78S (c.233A>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: N78S (c.233A>G)

MultipleGeneVariants: N/A

PatientID: 17

KindredID: 17

Case: 20Y0M, sex unknown, ethnicity unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma; retinal capillary hemangioma)

CaseHPOFreeText: See Table 1&2 for retinal capillary hemangioma information

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S65L (c.194C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 182975 https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

CAID: N/A

gnomAD: https://gnomad.broadinstitute.org/variant/3-10183725-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: S65L (c.194C>T)

MultipleGeneVariants: N/A

DOI: 10.1016/j.isci.2026.118098

Resource: Microsoft Excel (RRID:SCR_016137)

Curator: @scibot

SciCrunch record: RRID:SCR_016137

What is this?

DOI: 10.1016/j.isci.2026.118098

Resource: Python Programming Language (RRID:SCR_008394)

Curator: @scibot

SciCrunch record: RRID:SCR_008394

What is this?

A cohort of 314 patients with pheochromocytoma and functional paraganglioma had blood samples collected and all five major pheo-pgl susceptibility genes (RET, VHL, SDHB, SDHD, and SDHC) were screened for mutations. 25 patients had germline VHL mutations, 16 of which had a family history and 9 patients had an apparently sporadic presentation, 11 were male and 14 were female, the median age of diagnosis is 23.9 and range of diagnosis was 4-49. Out of the 25 patients 23 had adrenal tumours, 4 had para-adrenal tumours, and 9 had other VHL lesions (renal tumours and hemangioblastomas). 1 patient with postive family history and/or a syndromic presentation and 1 patient with an apparently sporadic presentation were found with pheochromocytoma or functional paraganglioma and a germline missense VHL mutation (c.533T>C). Other phenotypes unique to the patient are unknown. ACMG: PP4

DOI: 10.1016/j.isci.2026.118097

Resource: MatPlotLib (RRID:SCR_008624)

Curator: @scibot

SciCrunch record: RRID:SCR_008624

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: Biopython (RRID:SCR_007173)

Curator: @scibot

SciCrunch record: RRID:SCR_007173

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: statsmodel (RRID:SCR_016074)

Curator: @scibot

SciCrunch record: RRID:SCR_016074

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: Pandas (RRID:SCR_018214)

Curator: @scibot

SciCrunch record: RRID:SCR_018214

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: VirHostNet: Virus-Host Network (RRID:SCR_005978)

Curator: @scibot

SciCrunch record: RRID:SCR_005978

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: NumPy (RRID:SCR_008633)

Curator: @scibot

SciCrunch record: RRID:SCR_008633

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: Python Programming Language (RRID:SCR_008394)

Curator: @scibot

SciCrunch record: RRID:SCR_008394

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: SciPy (RRID:SCR_008058)

Curator: @scibot

SciCrunch record: RRID:SCR_008058

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: scikit-learn (RRID:SCR_002577)

Curator: @scibot

SciCrunch record: RRID:SCR_002577

What is this?

DOI: 10.1016/j.isci.2026.118097

Resource: seaborn (RRID:SCR_018132)

Curator: @scibot

SciCrunch record: RRID:SCR_018132

What is this?

Patients with either sporadic or familial pheochromocytoma or paraganglioma diagnosed at or referred to the Cliniques Universitaires Saint Luc (Universite´ catholique de Louvain) from May 2003 to May 2006 had DNA from peripheral blood screened for the coding parts of SDH, VHL and RET genes, performed by SSCP. A VHL germline mutation (D126N) was found in a Belgian patient with sporadic right jugulotympanic paraganglioma, diagnosed at 53, without any other VHL phenotypes. This patient was previously published in 12393546.

PatientID: 5730

KindredID: 269

Case: Sex Unknown, Age Unknown, French

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: Families were recruited from the French VHL Registry. Enrolment in the study required identification of the germline VHL mutation (currently 85% of the families included in the French VHL Registry) and available data regarding renal phenotype. A total of 126 families fulfilled these criteria.

CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

CaseHPOFreeText: Severe renal disease (any solid lesion before 25 years of age, five or more solid lesions within one or two kidneys, or metastasis of renal cell carcinoma). Individual RCC phenotype is noted as positive.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: Paper states that this family is previously reported in PMID 12202531 and/or 9829912, where 1 and 1 individuals respectively with this mutation are reported. It is unclear if one or both of these previously reported groups are the same as the current family. These previously published individuals could alternatively correspond to family 1005.

SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.

Variant: p.L188P (c.563T>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625266, https://www.ncbi.nlm.nih.gov/clinvar/variation/625266/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: L188P (c.563T>C)

MultipleGeneVariants: N/A

DOI: 10.1016/j.isci.2026.118090

Resource: RRID:AB_2883163

Curator: @scibot

SciCrunch record: RRID:AB_2883163

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: RRID:AB_3746715

Curator: @scibot

SciCrunch record: RRID:AB_3746715

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: RRID:AB_2883012

Curator: @scibot

SciCrunch record: RRID:AB_2883012

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: (Thermo Fisher Scientific Cat# 17-2061-82, RRID:AB_2637420)

Curator: @scibot

SciCrunch record: RRID:AB_2637420

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: (Thermo Fisher Scientific Cat# 48-4801-82, RRID:AB_1548747)

Curator: @scibot

SciCrunch record: RRID:AB_1548747

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: RRID:AB_3084658

Curator: @scibot

SciCrunch record: RRID:AB_3084658

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: (Proteintech Cat# PE-65068, RRID:AB_2883865)

Curator: @scibot

SciCrunch record: RRID:AB_2883865

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: (Proteintech Cat# FITC-65076, RRID:AB_2883762)

Curator: @scibot

SciCrunch record: RRID:AB_2883762

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: RRID:AB_837105

Curator: @scibot

SciCrunch record: RRID:AB_837105

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: (BioLegend Cat# 156603, RRID:AB_2783137)

Curator: @scibot

SciCrunch record: RRID:AB_2783137

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: (Transgen Biotech Cat# HT201, RRID:AB_2927465)

Curator: @scibot

SciCrunch record: RRID:AB_2927465

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: (Transgen Biotech Cat# HS201-01, RRID:AB_2629433)

Curator: @scibot

SciCrunch record: RRID:AB_2629433

What is this?

DOI: 10.1016/j.isci.2026.118090

Resource: (Transgen Biotech Cat# HT301, RRID:AB_3076171)

Curator: @scibot

SciCrunch record: RRID:AB_3076171

What is this?

DOI: 10.1016/j.isci.2026.118087

Resource: Avisoft-RECORDER (RRID:SCR_014436)

Curator: @scibot

SciCrunch record: RRID:SCR_014436

What is this?

DOI: 10.1016/j.isci.2026.118087

Resource: Avisoft SASLabPro (RRID:SCR_014438)

Curator: @scibot

SciCrunch record: RRID:SCR_014438

What is this?

DOI: 10.1016/j.isci.2026.118087

Resource: Biorender (RRID:SCR_018361)

Curator: @scibot

SciCrunch record: RRID:SCR_018361

What is this?

DOI: 10.1016/j.isci.2026.118087

Resource: RStudio (RRID:SCR_000432)

Curator: @scibot

SciCrunch record: RRID:SCR_000432

What is this?

DOI: 10.1016/j.isci.2026.118087

Resource: GraphPad Prism (RRID:SCR_002798)

Curator: @scibot

SciCrunch record: RRID:SCR_002798

What is this?

DOI: 10.1016/j.isci.2026.118086

Resource: (BioLegend Cat# 400113, RRID:AB_326435)

Curator: @scibot

SciCrunch record: RRID:AB_326435

What is this?

DOI: 10.1016/j.isci.2026.118086

Resource: (Sigma-Aldrich Cat# T5326, RRID:AB_532292)

Curator: @scibot

SciCrunch record: RRID:AB_532292

What is this?

DOI: 10.1016/j.isci.2026.118086

Resource: (Thermo Fisher Scientific Cat# MA5-14889, RRID:AB_10985650)

Curator: @scibot

SciCrunch record: RRID:AB_10985650

What is this?

DOI: 10.1016/j.isci.2026.118086

Resource: (Santa Cruz Biotechnology Cat# sc-48357, RRID:AB_627584)

Curator: @scibot

SciCrunch record: RRID:AB_627584

What is this?

DOI: 10.1016/j.isci.2026.118085

Resource: (ATCC Cat# CRL-4000, RRID:CVCL_4388)

Curator: @scibot

SciCrunch record: RRID:CVCL_4388

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: RRID:Addgene_153521

Curator: @scibot

SciCrunch record: RRID:Addgene_153521

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: RRID:Addgene_128961

Curator: @scibot

SciCrunch record: RRID:Addgene_128961

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (Thermo Fisher Scientific Cat# A-31573, RRID:AB_2536183)

Curator: @scibot

SciCrunch record: RRID:AB_2536183

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (ECACC Cat# 95011018, RRID:CVCL_3987)

Curator: @scibot

SciCrunch record: RRID:CVCL_3987

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (Thermo Fisher Scientific Cat# A-11055, RRID:AB_2534102)

Curator: @scibot

SciCrunch record: RRID:AB_2534102

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (Molecular Probes Cat# A-31571, RRID:AB_162542)

Curator: @scibot

SciCrunch record: RRID:AB_162542

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (Thermo Fisher Scientific Cat# A10042, RRID:AB_2534017)

Curator: @scibot

SciCrunch record: RRID:AB_2534017

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (Abcam Cat# ab224637, RRID:AB_2801385)

Curator: @scibot

SciCrunch record: RRID:AB_2801385

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (Cell Signaling Technology Cat# 9661, RRID:AB_2341188)

Curator: @scibot

SciCrunch record: RRID:AB_2341188

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (BD Biosciences Cat# 610181, RRID:AB_397580)

Curator: @scibot

SciCrunch record: RRID:AB_397580

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (Abcam Cat# ab209665, RRID:AB_2750925)

Curator: @scibot

SciCrunch record: RRID:AB_2750925

What is this?

DOI: 10.1016/j.isci.2026.118084

Resource: (Santa Cruz Biotechnology Cat# sc-17320, RRID:AB_2286684)

Curator: @scibot

SciCrunch record: RRID:AB_2286684

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (RRID:CVCL_0063)

Curator: @scibot

SciCrunch record: RRID:CVCL_0063

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Molecular Probes Cat# A-11011, RRID:AB_143157)

Curator: @scibot

SciCrunch record: RRID:AB_143157

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (ATCC Cat# CRL-3275, RRID:CVCL_DA04)

Curator: @scibot

SciCrunch record: RRID:CVCL_DA04

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: RRID:IMSR_RJ:C57BL-6JRJ

Curator: @scibot

SciCrunch record: RRID:IMSR_RJ:C57BL-6JRJ

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Thermo Fisher Scientific Cat# A-11008, RRID:AB_143165)

Curator: @scibot

SciCrunch record: RRID:AB_143165

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Abcam Cat# ab178846, RRID:AB_2636859)

Curator: @scibot

SciCrunch record: RRID:AB_2636859

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Molecular Probes Cat# A-21124, RRID:AB_141611)

Curator: @scibot

SciCrunch record: RRID:AB_141611

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Millipore Cat# MAB377, RRID:AB_2298772)

Curator: @scibot

SciCrunch record: RRID:AB_2298772

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Sigma-Aldrich Cat# M4403, RRID:AB_477193)

Curator: @scibot

SciCrunch record: RRID:AB_477193

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Agilent Cat# Z0334, RRID:AB_10013382)

Curator: @scibot

SciCrunch record: RRID:AB_10013382

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Sigma-Aldrich Cat# N4142, RRID:AB_477272)

Curator: @scibot

SciCrunch record: RRID:AB_477272

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Thermo Fisher Scientific Cat# MN1020, RRID:AB_223647)

Curator: @scibot

SciCrunch record: RRID:AB_223647

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (P. Davies Albert Einstein College of Medicine; New York; USA Cat# MC1, RRID:AB_2314773)

Curator: @scibot

SciCrunch record: RRID:AB_2314773

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Thermo Fisher Scientific Cat# 44-752G, RRID:AB_2533745)

Curator: @scibot

SciCrunch record: RRID:AB_2533745

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Thermo Fisher Scientific Cat# 44-744, RRID:AB_2533741)

Curator: @scibot

SciCrunch record: RRID:AB_2533741

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Sigma-Aldrich Cat# G9545, RRID:AB_796208)

Curator: @scibot

SciCrunch record: RRID:AB_796208

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Thermo Fisher Scientific Cat# MN1060, RRID:AB_223652)

Curator: @scibot

SciCrunch record: RRID:AB_223652

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Vector Laboratories Cat# PI-1000-1, RRID:AB_2916034)

Curator: @scibot

SciCrunch record: RRID:AB_2916034

What is this?

DOI: 10.1016/j.isci.2026.118083

Resource: (Thermo Fisher Scientific Cat# ICN623411, RRID:AB_2334981)

Curator: @scibot

SciCrunch record: RRID:AB_2334981

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: (BioLegend Cat# 303110, RRID:AB_493074)

Curator: @scibot

SciCrunch record: RRID:AB_493074

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: (Abcam Cat# ab303565, RRID:AB_3075482)

Curator: @scibot

SciCrunch record: RRID:AB_3075482

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: (Molecular Probes Cat# A-21207, RRID:AB_141637)

Curator: @scibot

SciCrunch record: RRID:AB_141637

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: (Thermo Fisher Scientific Cat# 14-9760-82, RRID:AB_2572996)

Curator: @scibot

SciCrunch record: RRID:AB_2572996

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: (Molecular Probes Cat# A-21202, RRID:AB_141607)

Curator: @scibot

SciCrunch record: RRID:AB_141607

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: RRID:AB_3756321

Curator: @scibot

SciCrunch record: RRID:AB_3756321

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: RRID:AB_3105755

Curator: @scibot

SciCrunch record: RRID:AB_3105755

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: RRID:AB_3755777

Curator: @scibot

SciCrunch record: RRID:AB_3755777

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: RRID:AB_3665134

Curator: @scibot

SciCrunch record: RRID:AB_3665134

What is this?

DOI: 10.1016/j.isci.2026.118072

Resource: RRID:AB_3719158

Curator: @scibot

SciCrunch record: RRID:AB_3719158

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: BD LSRFortessa cell analyzer (RRID:SCR_018655)

Curator: @scibot

SciCrunch record: RRID:SCR_018655

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (CLS Cat# 300324/p10280_RT-112, RRID:CVCL_1670)

Curator: @scibot

SciCrunch record: RRID:CVCL_1670

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (CLS Cat# 300326/p10281_RT-4, RRID:CVCL_0036)

Curator: @scibot

SciCrunch record: RRID:CVCL_0036

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (BioLegend Cat# 364803 (also 364804), RRID:AB_2910409)

Curator: @scibot

SciCrunch record: RRID:AB_2910409

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (BioLegend Cat# 302934, RRID:AB_11148949)

Curator: @scibot

SciCrunch record: RRID:AB_11148949

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: RRID:AB_2616740

Curator: @scibot

SciCrunch record: RRID:AB_2616740

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Thermo Fisher Scientific Cat# 16-0037-85, RRID:AB_468855)

Curator: @scibot

SciCrunch record: RRID:AB_468855

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (BioLegend Cat# 300402, RRID:AB_314056)

Curator: @scibot

SciCrunch record: RRID:AB_314056

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Thermo Fisher Scientific Cat# A-11072, RRID:AB_2534116)

Curator: @scibot

SciCrunch record: RRID:AB_2534116

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (BioLegend Cat# 515408, RRID:AB_2562196)

Curator: @scibot

SciCrunch record: RRID:AB_2562196

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 7076, RRID:AB_330924)

Curator: @scibot

SciCrunch record: RRID:AB_330924

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (BioLegend Cat# 308126, RRID:AB_2572049)

Curator: @scibot

SciCrunch record: RRID:AB_2572049

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (BioLegend Cat# 369320, RRID:AB_2716125)

Curator: @scibot

SciCrunch record: RRID:AB_2716125

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 7074, RRID:AB_2099233)

Curator: @scibot

SciCrunch record: RRID:AB_2099233

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (ATCC Cat# CRL-7927, RRID:CVCL_1292)

Curator: @scibot

SciCrunch record: RRID:CVCL_1292

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (ECACC Cat# 96020936, RRID:CVCL_1783)

Curator: @scibot

SciCrunch record: RRID:CVCL_1783

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 14803, RRID:AB_2798620)

Curator: @scibot

SciCrunch record: RRID:AB_2798620

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 5174, RRID:AB_10622025)

Curator: @scibot

SciCrunch record: RRID:AB_10622025

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 8480, RRID:AB_11127855)

Curator: @scibot

SciCrunch record: RRID:AB_11127855

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 8457, RRID:AB_10950489)

Curator: @scibot

SciCrunch record: RRID:AB_10950489

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 3195, RRID:AB_2291471)

Curator: @scibot

SciCrunch record: RRID:AB_2291471

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 5852, RRID:AB_10835690)

Curator: @scibot

SciCrunch record: RRID:AB_10835690

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 9139, RRID:AB_331757)

Curator: @scibot

SciCrunch record: RRID:AB_331757

What is this?

DOI: 10.1016/j.isci.2026.118071

Resource: (Cell Signaling Technology Cat# 9744, RRID:AB_11178953)

Curator: @scibot

SciCrunch record: RRID:AB_11178953