RRID:AB_2563150
DOI: 10.21203/rs.3.rs-10832865/v1
Resource: (BioLegend Cat# 344622, RRID:AB_2563150)
Curator: @scibot
SciCrunch record: RRID:AB_2563150
RRID:AB_2563150
DOI: 10.21203/rs.3.rs-10832865/v1
Resource: (BioLegend Cat# 344622, RRID:AB_2563150)
Curator: @scibot
SciCrunch record: RRID:AB_2563150
RRID:AB_2563653
DOI: 10.21203/rs.3.rs-10832865/v1
Resource: (BioLegend Cat# 304136, RRID:AB_2563653)
Curator: @scibot
SciCrunch record: RRID:AB_2563653
RRID:AB_314064
DOI: 10.21203/rs.3.rs-10832865/v1
Resource: (BioLegend Cat# 300410, RRID:AB_314064)
Curator: @scibot
SciCrunch record: RRID:AB_314064
RRID:AB_2870140
DOI: 10.21203/rs.3.rs-10832865/v1
Resource: (BD Biosciences Cat# 612815, RRID:AB_2870140)
Curator: @scibot
SciCrunch record: RRID:AB_2870140
RRID:AB_2894450
DOI: 10.21203/rs.3.rs-10832865/v1
Resource: RRID:AB_2894450
Curator: @scibot
SciCrunch record: RRID:AB_2894450
2/a
Case#: 2/a, age 20, age 14 (report)
DiseaseAssertion: Pompe Disease
FamilyInfo: Family 2, no further information
CasePresenting HPOs:HP:0002878, HP:0012378, HP:0003546, HP:0001324 (Respiratory failure, fatigue, exercise intolerance, muscle weakness)
CaseHPOFreeText: valvular myopathy, biopsy with vacuolar myopathy with PAS +
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: single gene sequencing/analysis, 64.47 NaG/AaGIA, 92.28% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range
Variants:
Variant 1:NM_000152.5(GAA):c.377G>A (p.Trp126Ter)
ClinVar: 932904
Variant 2: NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
ClinVar: 279811
ParentalGenotypes: N/A
PreviouslyPublished: N/A
P10a
Patient10: Female, 75yo
CasePresentingHPOs: HP:0000822
HPOsFreeText: LOPD
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: 5yr follow-up MRI, 40yr disease duration, ERT lasted 103mo
CasePMIDs: PMID: 25614309
CasePreviousTesting: same as group
CaseGenotypingMethod: same as group
Variant1: NM_000152.4(GAA):c.-32-13T>G
Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/
gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G
Variant2: NC_000017.11:g.(?80118193)(80118357_?)del (del exon 18)
ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/
gnomAD: n/a
10
Patient10: Male, 39 years report, 17 years onset
CasePresentingHPOs: HP:0001640, HP:0001324, HP:0002098, HP:0002240 (Cardiomegaly, Muscle weakness, Respiratory distress, Hepatomegaly)
HPOsFreeText: GAA activity 9.3% from leukocyte, Wheelchair needed, Respiratory Assistance needed
CaseAddInfo: LOPD
PD/VOUS-2
CasePD/VOUS-2: 2 weeks diagnosis
HPOsFreeText: GAA activity 16.6 (nmol · h−1 · mg−1), Mean percentage of normal 23.3%
GenotypingMethod: Newborn Screening Panels
Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)
ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/
gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A
Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)
ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/
gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A
Variant3: NM_000152.4:c.2069C>T (p.Pro690Leu)
ClinVar: 424308 https://www.ncbi.nlm.nih.gov/clinvar/variation/424308/
gnomAD: East Asian 1.077e-4, Overall 2.337e-5 http://gnomad.broadinstitute.org/variant/17-78087045-C-T
CaseAddInfo: Patient has one pseudodeficency allele and one allele of uncertain significance, Nomenclature claims Variant 1 and 2 are in cis
LOPD-14
CaseLOPD-14: 2 weeks diagnosis
HPOsFreeText: GAA activity 3.0 (nmol · h−1 · mg−1), Mean percentage of normal 4.2%
GenotypingMethod: Newborn Screening Panels
Variant1: NM_000152.4:c.-32-13T>G
ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027
gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G
Variant2: NM_000152.4:c.2509C>T (p.Arg837Cys)
ClinVar: 456408 https://www.ncbi.nlm.nih.gov/clinvar/variation/456408/
gnomAD: European (Non-Finnish) 4.676e-5, Overall 2.487e-5 http://gnomad.broadinstitute.org/variant/17-78092019-C-T
CaseAddInfo: Late Onset Pompe Disease
Addgene_105448
DOI: 10.21203/rs.3.rs-10540538/v1
Resource: RRID:Addgene_105448
Curator: @scibot
SciCrunch record: RRID:Addgene_105448
Addgene_51085
DOI: 10.21203/rs.3.rs-10540538/v1
Resource: RRID:Addgene_51085
Curator: @scibot
SciCrunch record: RRID:Addgene_51085
Addgene_83898
DOI: 10.21203/rs.3.rs-10540538/v1
Resource: RRID:Addgene_83898
Curator: @scibot
SciCrunch record: RRID:Addgene_83898
#17
Case17: Male, 11 years onset, 15 years diagnosis
CaseAddInfo: Late-Onset Pompe Disease
(Supplementary Table S3 shows details, IgG trajectories, and outcomes).
Patient 15 - IOPD - homozygous
Variant: NM_000152.4(GAA):c.925G>A (p.Gly309Arg)
ClinVar: 188797, https://www.ncbi.nlm.nih.gov/clinvar/variation/188797/
gnomAD: 0.00002860, http://gnomad.broadinstitute.org/variant/17-78081665-G-A
c.2560C > T(p.Arg854*)
Case21
HPOsFreeText: See Group Phenotypes
CasePreviousTesting: Sanger sequencing
CaseMethod1: Sanger sequencing and PCR Amplification
CaseMethod2: Whole Exome Sequencing (WES)
CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.
Variant1: NM_000152.4:c.2560C>T (p.Arg854*)
ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/
gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T
Variant2: NM_000152.4:c.1129G>C (p.Gly377Arg)
ClinVar: 497033 https://www.ncbi.nlm.nih.gov/clinvar/variation/497033/
gnomAD: European (Non-Finnish) 2.356e-5, Overall 1.072e-5 http://gnomad.broadinstitute.org/variant/17-78082341-G-C
CaseAddInfo: Infantile Onset Pompe Disease
plasmid_12260
DOI: 10.21203/rs.3.rs-10438702/v1
Resource: RRID:Addgene_12260
Curator: @scibot
SciCrunch record: RRID:Addgene_12260
PD04
Patient4: Female, southern China
CasePresentingHPOs:
HPOsFreeText: IOPD
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo:
CasePMIDs:
CasePreviousTesting: same as group
CaseGenotypingMethod: same as group
Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)
ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/
gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A
Variant2: NM_000152.4(GAA):c.2185delC (p.Leu729Trpfs) **this is not the same protein transcript listed in paper (p.Thr729fsX8) but I could not find this in clinvar or allele registry)
ClinVar: 370552, https://www.ncbi.nlm.nih.gov/clinvar/variation/370552/https://www.ncbi.nlm.nih.gov/clinvar/variation/370552/
gnomAD: n/a
plasmid_19328
DOI: 10.17912/micropub.biology.002217
Resource: RRID:Addgene_19328
Curator: @scibot
SciCrunch record: RRID:Addgene_19328
plasmid_19359
DOI: 10.17912/micropub.biology.002217
Resource: RRID:Addgene_19359
Curator: @scibot
SciCrunch record: RRID:Addgene_19359
Addgene_61250
DOI: 10.17912/micropub.biology.002217
Resource: RRID:Addgene_61250
Curator: @scibot
SciCrunch record: RRID:Addgene_61250
P2
PatientF3P2: Female, 36 years diagnosis, European and Native American
CasePresentingHPOs: HP:0003236, HP:0012378, HP:0003547, HP:0009113, HP:0002910 (Increased serum CK, Fatigue, Shoulder weakness, Weak diaphragm, Increased transaminases)
HPOsFreeText: Decline in energy and strength reported with each of her four pregnancies most prominent after her youngest daughter's diagnosis of IOPD, Subsequent enzyme assay indicated deficient GAA activity via a dried blood spot (2.2 pmol/punch/hr, control >3.88 pmol/punch/hr), Pulmonary functioning tests (PFTs) showed a decrease in forced vital capacity (FVC) from 93% predicted seated to 72% predicted supine, Laboratory results demonstrated an elevated CK level of 490 U/L (control 30–220 U/L) and mild elevation of transaminases with AST of 83 U/L (control 15–41 U/L) and ALT of 60 U/L (control 14–54 U/L)
CaseAddInfo: Mother of proband F3P1, found to have minimally symptomatic LOPD
Plasmid_69232
DOI: 10.1371/journal.ppat.1014760
Resource: RRID:Addgene_69232
Curator: @scibot
SciCrunch record: RRID:Addgene_69232
RRID:SCR_012986
DOI: 10.1371/journal.ppat.1014698
Resource: Nonhuman Primate Reagent Resource (RRID:SCR_012986)
Curator: @scibot
SciCrunch record: RRID:SCR_012986
RRID:AB_2910541
DOI: 10.1371/journal.ppat.1014698
Resource: RRID:AB_2910541
Curator: @scibot
SciCrunch record: RRID:AB_2910541
RRID:AB_2941341
DOI: 10.1371/journal.ppat.1014698
Resource: RRID:AB_2941341
Curator: @scibot
SciCrunch record: RRID:AB_2941341
RRID:AB_2910540
DOI: 10.1371/journal.ppat.1014698
Resource: RRID:AB_2910540
Curator: @scibot
SciCrunch record: RRID:AB_2910540
RRID:AB_2895641
DOI: 10.1371/journal.ppat.1014698
Resource: (NIH Nonhuman Primate Reagent Resource Cat# PR-0040, RRID:AB_2895641)
Curator: @scibot
SciCrunch record: RRID:AB_2895641
RRID:AB_2941337
DOI: 10.1371/journal.ppat.1014698
Resource: RRID:AB_2941337
Curator: @scibot
SciCrunch record: RRID:AB_2941337
RRID:AB_2819255
DOI: 10.1371/journal.ppat.1014698
Resource: (NIH Nonhuman Primate Reagent Resource Cat# PR-4000, RRID:AB_2819255)
Curator: @scibot
SciCrunch record: RRID:AB_2819255
RRID:AB_2819280
DOI: 10.1371/journal.ppat.1014698
Resource: (NIH Nonhuman Primate Reagent Resource Cat# PR-8130, RRID:AB_2819280)
Curator: @scibot
SciCrunch record: RRID:AB_2819280
RRID:AB_2819279
DOI: 10.1371/journal.ppat.1014698
Resource: (NIH Nonhuman Primate Reagent Resource Cat# PR-4190, RRID:AB_2819279)
Curator: @scibot
SciCrunch record: RRID:AB_2819279
RRID:AB_528068
DOI: 10.1371/journal.pone.0361705
Resource: (DSHB Cat# jla20, RRID:AB_528068)
Curator: @scibot
SciCrunch record: RRID:AB_528068
RRID:AB_2877126
DOI: 10.1371/journal.pone.0361705
Resource: (Millipore Cat# MABE1073, RRID:AB_2877126)
Curator: @scibot
SciCrunch record: RRID:AB_2877126
RRID:AB_10705575
DOI: 10.1371/journal.pone.0361705
Resource: (Cell Signaling Technology Cat# 5696, RRID:AB_10705575)
Curator: @scibot
SciCrunch record: RRID:AB_10705575
RRID:AB_2895217
DOI: 10.1371/journal.pone.0361705
Resource: (Cell Signaling Technology Cat# 66042, RRID:AB_2895217)
Curator: @scibot
SciCrunch record: RRID:AB_2895217
RRID:AB_228378
DOI: 10.1371/journal.pone.0361705
Resource: (Thermo Fisher Scientific Cat# 31464, RRID:AB_228378)
Curator: @scibot
SciCrunch record: RRID:AB_228378
RRID:SCR_016142
DOI: 10.1371/journal.pone.0361520
Resource: jamovi (RRID:SCR_016142)
Curator: @scibot
SciCrunch record: RRID:SCR_016142
RRID:SCR_005547
DOI: 10.1371/journal.pone.0361520
Resource: Chronux (RRID:SCR_005547)
Curator: @scibot
SciCrunch record: RRID:SCR_005547
RRID:SCR_001761
DOI: 10.1371/journal.pone.0361520
Resource: Brainstorm (RRID:SCR_001761)
Curator: @scibot
SciCrunch record: RRID:SCR_001761
RRID:SCR_017634
DOI: 10.1371/journal.pone.0361520
Resource: RRID:SCR_017634
Curator: @scibot
SciCrunch record: RRID:SCR_017634
RRID:SCR_003210
DOI: 10.1371/journal.pone.0361520
Resource: SigmaPlot (RRID:SCR_003210)
Curator: @scibot
SciCrunch record: RRID:SCR_003210
RRID:SCR_009567
DOI: 10.1371/journal.pone.0361520
Resource: E-Prime (RRID:SCR_009567)
Curator: @scibot
SciCrunch record: RRID:SCR_009567
RRID:SCR_007345
DOI: 10.13026/et5g-h222
Resource: PhysioNet (RRID:SCR_007345)
Curator: @scibot
SciCrunch record: RRID:SCR_007345
RRID:SCR_007345
DOI: 10.13026/b53c-b825
Resource: PhysioNet (RRID:SCR_007345)
Curator: @scibot
SciCrunch record: RRID:SCR_007345
RRID:SCR_007345
DOI: 10.13026/126e-mx94
Resource: PhysioNet (RRID:SCR_007345)
Curator: @scibot
SciCrunch record: RRID:SCR_007345
RRID:AB_10987418
DOI: 10.1210/clinem/dgag411
Resource: RRID:AB_10987418
Curator: @scibot
SciCrunch record: RRID:AB_10987418
RRID:AB_443430
DOI: 10.1210/clinem/dgag411
Resource: RRID:AB_443430
Curator: @scibot
SciCrunch record: RRID:AB_443430
RRID:AB_331563
DOI: 10.1210/clinem/dgag411
Resource: (Cell Signaling Technology Cat# 9715, RRID:AB_331563)
Curator: @scibot
SciCrunch record: RRID:AB_331563
RRID:AB_3644262
DOI: 10.1210/clinem/dgag411
Resource: (Abcam Cat# ab275377, RRID:AB_3644262)
Curator: @scibot
SciCrunch record: RRID:AB_3644262
RRID:AB_2307392
DOI: 10.1210/clinem/dgag411
Resource: (Jackson ImmunoResearch Labs Cat# 115-035-146, RRID:AB_2307392)
Curator: @scibot
SciCrunch record: RRID:AB_2307392
RRID:AB_2809740
DOI: 10.1210/clinem/dgag411
Resource: (Thermo Fisher Scientific Cat# MA5-32463, RRID:AB_2809740)
Curator: @scibot
SciCrunch record: RRID:AB_2809740
RRID:AB_2307391
DOI: 10.1210/clinem/dgag411
Resource: (Jackson ImmunoResearch Labs Cat# 111-035-144, RRID:AB_2307391)
Curator: @scibot
SciCrunch record: RRID:AB_2307391
RRID:AB_2884028
DOI: 10.1210/clinem/dgag411
Resource: (Novus Cat# NBP2-42225, RRID:AB_2884028)
Curator: @scibot
SciCrunch record: RRID:AB_2884028
RRID:AB_3095311
DOI: 10.1210/clinem/dgag359
Resource: (Roche Cat# 08443432190, RRID:AB_3095311)
Curator: @scibot
SciCrunch record: RRID:AB_3095311
AB_3741142
DOI: 10.1210/clinem/dgag359
Resource: RRID:AB_3741142
Curator: @scibot
SciCrunch record: RRID:AB_3741142
RRID:AB_3752290
DOI: 10.1210/clinem/dgag359
Resource: RRID:AB_3752290
Curator: @scibot
SciCrunch record: RRID:AB_3752290
RRID:SCR_025231
DOI: 10.1200/OA-26-00101
Resource: University of North Carolina at Chapel Hill Translational Genomics Lab Core Facility (RRID:SCR_025231)
Curator: @scibot
SciCrunch record: RRID:SCR_025231
RRID:SCR_018361
DOI: 10.1186/s40478-026-02460-2
Resource: Biorender (RRID:SCR_018361)
Curator: @scibot
SciCrunch record: RRID:SCR_018361
RRID:SCR_001030
DOI: 10.1186/s40478-026-02460-2
Resource: Washington University in St. Louis Genome Technology Access Center (RRID:SCR_001030)
Curator: @scibot
SciCrunch record: RRID:SCR_001030
RRID:SCR_002798
DOI: 10.1186/s40478-026-02460-2
Resource: GraphPad Prism (RRID:SCR_002798)
Curator: @scibot
SciCrunch record: RRID:SCR_002798
RRID:SCR_013673
DOI: 10.1186/s40478-026-02460-2
Resource: Leica Application Suite X (RRID:SCR_013673)
Curator: @scibot
SciCrunch record: RRID:SCR_013673
RRID:SCR_018771
DOI: 10.1186/s40478-026-02460-2
Resource: DoubletFinder (RRID:SCR_018771)
Curator: @scibot
SciCrunch record: RRID:SCR_018771
RRID:SCR_003070
DOI: 10.1186/s40478-026-02460-2
Resource: ImageJ (RRID:SCR_003070)
Curator: @scibot
SciCrunch record: RRID:SCR_003070
RRID:SCR_016341
DOI: 10.1186/s40478-026-02460-2
Resource: Seurat (RRID:SCR_016341)
Curator: @scibot
SciCrunch record: RRID:SCR_016341
RRID:SCR_027043
DOI: 10.1186/s40478-026-02460-2
Resource: RRID:SCR_027043
Curator: @scibot
SciCrunch record: RRID:SCR_027043
RRID:CVCL_0063
DOI: 10.1186/s40478-026-02460-2
Resource: (RRID:CVCL_0063)
Curator: @scibot
SciCrunch record: RRID:CVCL_0063
RRID:SCR_015795
DOI: 10.1186/s40478-026-02460-2
Resource: LI-COR Image Studio Software (RRID:SCR_015795)
Curator: @scibot
SciCrunch record: RRID:SCR_015795
RRID:SCR_015687
DOI: 10.1186/s40478-026-02460-2
Resource: DESeq2 (RRID:SCR_015687)
Curator: @scibot
SciCrunch record: RRID:SCR_015687
RRID:SCR_011860
DOI: 10.1186/s40478-026-02460-2
Resource: Partek Genomics Suite (RRID:SCR_011860)
Curator: @scibot
SciCrunch record: RRID:SCR_011860
RRID:SCR_018098
DOI: 10.1186/s40478-026-02460-2
Resource: Scrublet (RRID:SCR_018098)
Curator: @scibot
SciCrunch record: RRID:SCR_018098
AB_2535792
DOI: 10.1186/s40478-026-02458-w
Resource: (Thermo Fisher Scientific Cat# A-21206, RRID:AB_2535792)
Curator: @scibot
SciCrunch record: RRID:AB_2535792
AB_11036146
DOI: 10.1186/s40478-026-02458-w
Resource: (Novus Cat# NBP1-92693, RRID:AB_11036146)
Curator: @scibot
SciCrunch record: RRID:AB_11036146
AB_2799963
DOI: 10.1186/s40478-026-02458-w
Resource: (Cell Signaling Technology Cat# 80788, RRID:AB_2799963)
Curator: @scibot
SciCrunch record: RRID:AB_2799963
AB_141637
DOI: 10.1186/s40478-026-02458-w
Resource: (Molecular Probes Cat# A-21207, RRID:AB_141637)
Curator: @scibot
SciCrunch record: RRID:AB_141637
AB_141633
DOI: 10.1186/s40478-026-02458-w
Resource: (Molecular Probes Cat# A-21203, RRID:AB_141633)
Curator: @scibot
SciCrunch record: RRID:AB_141633
AB_2687663
DOI: 10.1186/s40478-026-02458-w
Resource: (Cell Signaling Technology Cat# 42406, RRID:AB_2687663)
Curator: @scibot
SciCrunch record: RRID:AB_2687663
AB_2534069
DOI: 10.1186/s40478-026-02458-w
Resource: (Thermo Fisher Scientific Cat# A-11001, RRID:AB_2534069)
Curator: @scibot
SciCrunch record: RRID:AB_2534069
AB_262133
DOI: 10.1186/s40478-026-02458-w
Resource: (Sigma-Aldrich Cat# T2200, RRID:AB_262133)
Curator: @scibot
SciCrunch record: RRID:AB_262133
AB_794874
DOI: 10.1186/s40478-026-02458-w
Resource: RRID:AB_794874
Curator: @scibot
SciCrunch record: RRID:AB_794874
AB_2535792
DOI: 10.1186/s40478-026-02458-w
Resource: (Thermo Fisher Scientific Cat# A-21206, RRID:AB_2535792)
Curator: @scibot
SciCrunch record: RRID:AB_2535792
AB_262133
DOI: 10.1186/s40478-026-02458-w
Resource: (Sigma-Aldrich Cat# T2200, RRID:AB_262133)
Curator: @scibot
SciCrunch record: RRID:AB_262133
AB_794874
DOI: 10.1186/s40478-026-02458-w
Resource: RRID:AB_794874
Curator: @scibot
SciCrunch record: RRID:AB_794874
AB_2799963
DOI: 10.1186/s40478-026-02458-w
Resource: (Cell Signaling Technology Cat# 80788, RRID:AB_2799963)
Curator: @scibot
SciCrunch record: RRID:AB_2799963
AB_2687663
DOI: 10.1186/s40478-026-02458-w
Resource: (Cell Signaling Technology Cat# 42406, RRID:AB_2687663)
Curator: @scibot
SciCrunch record: RRID:AB_2687663
AB_141637
DOI: 10.1186/s40478-026-02458-w
Resource: (Molecular Probes Cat# A-21207, RRID:AB_141637)
Curator: @scibot
SciCrunch record: RRID:AB_141637
AB_141633
DOI: 10.1186/s40478-026-02458-w
Resource: (Molecular Probes Cat# A-21203, RRID:AB_141633)
Curator: @scibot
SciCrunch record: RRID:AB_141633
AB_11036146
DOI: 10.1186/s40478-026-02458-w
Resource: (Novus Cat# NBP1-92693, RRID:AB_11036146)
Curator: @scibot
SciCrunch record: RRID:AB_11036146
AB_2534069
DOI: 10.1186/s40478-026-02458-w
Resource: (Thermo Fisher Scientific Cat# A-11001, RRID:AB_2534069)
Curator: @scibot
SciCrunch record: RRID:AB_2534069
4-year-old Japanese girl
Case1: Female, 4 years old, Japanese
DiseaseAssertion: Thrombocytopenia
FamilyInfo: 4-generation pedigree available
ParentalGenotype: See Figure 1 A for parents in the pedigree
CasePresentingHPOs: HP:0004406, HP:0000979
(Recurrent epistaxis, purpura)
CaseHPOFreeText: Mild bleeding tendency
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Flow cytometry showed reduced expression levels
PlateletAggregation: Platelet aggregation induced by ADP and collagen was markedly reduced but agglutination induced by ristocetin was within the normal range.
CasePreviousTesting: Direct sequencing analysis around T2231 in exon 14 of the ITGB3 gene. Genomic DNA extracted from the affected and unaffected individuals of the pedigree were amplified by PCR and sequenced (See Figure 2)
Gene: ITGB3
Variant: NM_000212.2:c.2231T>C (p.Leu744Pro)
LegacyVariant: p.Leu718Pro
ClinVar: 50229
CAiD: CA143712
gnomAD: N/A
RRID:AB_477010
DOI: 10.1186/s40478-026-02240-y
Resource: (Sigma-Aldrich Cat# G3893, RRID:AB_477010)
Curator: @scibot
SciCrunch record: RRID:AB_477010
RRID:AB_2572311
DOI: 10.1186/s40478-026-02240-y
Resource: (EnCor Biotechnology Cat# MCA-5C10, RRID:AB_2572311)
Curator: @scibot
SciCrunch record: RRID:AB_2572311
RRID:AB_3678889
DOI: 10.1186/s40478-026-02240-y
Resource: RRID:AB_3678889
Curator: @scibot
SciCrunch record: RRID:AB_3678889
RRID:AB_2109953
DOI: 10.1186/s40478-026-02240-y
Resource: (EnCor Biotechnology Cat# CPCA-GFAP, RRID:AB_2109953)
Curator: @scibot
SciCrunch record: RRID:AB_2109953
RRID:AB_2050678
DOI: 10.1186/s40478-026-02240-y
Resource: (Enzo Life Sciences Cat# BML-FG6090-0100, RRID:AB_2050678)
Curator: @scibot
SciCrunch record: RRID:AB_2050678
RRID:AB_3678888
DOI: 10.1186/s40478-026-02240-y
Resource: RRID:AB_3678888
Curator: @scibot
SciCrunch record: RRID:AB_3678888
RRID:AB_3711244
DOI: 10.1186/s40478-026-02240-y
Resource: RRID:AB_3711244
Curator: @scibot
SciCrunch record: RRID:AB_3711244
RRID:AB_10013382
DOI: 10.1186/s40478-026-02240-y
Resource: (Agilent Cat# Z0334, RRID:AB_10013382)
Curator: @scibot
SciCrunch record: RRID:AB_10013382
RRID:AB_2819167
DOI: 10.1186/s13023-026-04671-1
Resource: (Hangzhou HuaAn Biotechnology Cat# HA1006, RRID:AB_2819167)
Curator: @scibot
SciCrunch record: RRID:AB_2819167
RRID:SCR_013672
DOI: 10.1186/s13023-026-04671-1
Resource: ZEISS ZEN Microscopy Software (RRID:SCR_013672)
Curator: @scibot
SciCrunch record: RRID:SCR_013672
RRID:AB_2861647
DOI: 10.1186/s13023-026-04671-1
Resource: (ABclonal Cat# A12289, RRID:AB_2861647)
Curator: @scibot
SciCrunch record: RRID:AB_2861647
RRID:SCR_003070
DOI: 10.1186/s13023-026-04671-1
Resource: ImageJ (RRID:SCR_003070)
Curator: @scibot
SciCrunch record: RRID:SCR_003070
RRID:AB_2819166
DOI: 10.1186/s13023-026-04671-1
Resource: (Hangzhou HuaAn Biotechnology Cat# HA1001, RRID:AB_2819166)
Curator: @scibot
SciCrunch record: RRID:AB_2819166
AB_2084810
DOI: 10.1186/s13023-026-04671-1
Resource: (Abcam Cat# ab14705, RRID:AB_2084810)
Curator: @scibot
SciCrunch record: RRID:AB_2084810
RRID:AB_2811078
DOI: 10.1186/s13023-026-04671-1
Resource: (Huabio Cat# EM1101, RRID:AB_2811078)
Curator: @scibot
SciCrunch record: RRID:AB_2811078
RRID:AB_2214787
DOI: 10.1186/s13023-026-04671-1
Resource: (Abcam Cat# ab15895, RRID:AB_2214787)
Curator: @scibot
SciCrunch record: RRID:AB_2214787
RRID:AB_3075508
DOI: 10.1186/s13023-026-04671-1
Resource: (Abcam Cat# ab236898, RRID:AB_3075508)
Curator: @scibot
SciCrunch record: RRID:AB_3075508
RRID:AB_2828002
DOI: 10.1186/s13023-026-04671-1
Resource: (Proteintech Cat# 66369-1-Ig, RRID:AB_2828002)
Curator: @scibot
SciCrunch record: RRID:AB_2828002
RRID:AB_2687938
DOI: 10.1186/s13023-026-04671-1
Resource: (Proteintech Cat# 66009-1-Ig, RRID:AB_2687938)
Curator: @scibot
SciCrunch record: RRID:AB_2687938
RRID:SCR_015687
DOI: 10.1186/s13023-026-04671-1
Resource: DESeq2 (RRID:SCR_015687)
Curator: @scibot
SciCrunch record: RRID:SCR_015687
RRID:AB_2881265
DOI: 10.1186/s13023-026-04671-1
Resource: (Proteintech Cat# 55082-1-AP, RRID:AB_2881265)
Curator: @scibot
SciCrunch record: RRID:AB_2881265
RRID:SCR_012919
DOI: 10.1186/s13023-026-04671-1
Resource: featureCounts (RRID:SCR_012919)
Curator: @scibot
SciCrunch record: RRID:SCR_012919
RRID:AB_10859832
DOI: 10.1186/s13023-026-04671-1
Resource: (Proteintech Cat# 55070-1-AP, RRID:AB_10859832)
Curator: @scibot
SciCrunch record: RRID:AB_10859832
RRID:SCR_015530
DOI: 10.1186/s13023-026-04671-1
Resource: HISAT2 (RRID:SCR_015530)
Curator: @scibot
SciCrunch record: RRID:SCR_015530
RRID:SCR_016884
DOI: 10.1186/s13023-026-04671-1
Resource: clusterProfiler (RRID:SCR_016884)
Curator: @scibot
SciCrunch record: RRID:SCR_016884
RRID:AB_2085278
DOI: 10.1186/s13023-026-04671-1
Resource: (Proteintech Cat# 11242-1-AP, RRID:AB_2085278)
Curator: @scibot
SciCrunch record: RRID:AB_2085278
The patient is a Caucasian 43-year old female
Case1: Female, 43 years old, Caucasian
DiseaseAssertion: Thrombasthenia
FamilyInfo: Pedigree found in Fig. 2B
ParentalGenotype: See Pedigree Fig 2B
CasePresentingHPOs: HP:0000132 (Menorrhagia)
CaseHPOFreeText: Severe and frequent mucocutaneous hemorrhages, intra-peritoneal bleeding
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: 25% decrease of GPIbα and a reduced mean value of side scatter in the patient’s platelets.
PlateletAggregation: Platelet aggregation was markedly reduced in response to ADP, epinephrine, collagen, and arachidonic acid but agglutination induced by ristocetin was normal
CasePreviousTesting: Screening for mutations was carried out by direct sequencing of PCR-amplified overlapping fragments of reversed transcribed αIIb and β3 mRNA.
Gene: ITGB3
Variant: NM_000212.2:c.2231T>C (p.Leu744Pro)
LegacyVariant: (p.Leu718Pro)
ClinVar: 50229
CAiD: CA143712
gnomAD: N/A
RRID:SCR_026138
DOI: 10.1186/s12987-026-00894-3
Resource: Paris Brain Institute Data Analysis Core Facility (RRID:SCR_026138)
Curator: @scibot
SciCrunch record: RRID:SCR_026138
RRID:SCR_019015
DOI: 10.1186/s12864-026-13498-w
Resource: Hiroshima University Amphibian Research Center (RRID:SCR_019015)
Curator: @scibot
SciCrunch record: RRID:SCR_019015
SCR_018132
DOI: 10.1186/s12014-026-09646-9
Resource: seaborn (RRID:SCR_018132)
Curator: @scibot
SciCrunch record: RRID:SCR_018132
SCR_008058
DOI: 10.1186/s12014-026-09646-9
Resource: SciPy (RRID:SCR_008058)
Curator: @scibot
SciCrunch record: RRID:SCR_008058
RRID:SCR_008624
DOI: 10.1186/s12014-026-09646-9
Resource: MatPlotLib (RRID:SCR_008624)
Curator: @scibot
SciCrunch record: RRID:SCR_008624
RRID:SCR_018923
DOI: 10.1186/s12014-026-09646-9
Resource: Progenesis QI (RRID:SCR_018923)
Curator: @scibot
SciCrunch record: RRID:SCR_018923
RRID:SCR_014080
DOI: 10.1186/s12014-026-09646-9
Resource: Skyline (RRID:SCR_014080)
Curator: @scibot
SciCrunch record: RRID:SCR_014080
RRID:SCR_002380
DOI: 10.1186/s12014-026-09646-9
Resource: Universal Protein Resource (RRID:SCR_002380)
Curator: @scibot
SciCrunch record: RRID:SCR_002380
RRID:SCR_014485
DOI: 10.1186/s12014-026-09646-9
Resource: MaxQuant (RRID:SCR_014485)
Curator: @scibot
SciCrunch record: RRID:SCR_014485
RRID:SCR_024703
DOI: 10.1186/s12014-026-09646-9
Resource: Expasy Translate (RRID:SCR_024703)
Curator: @scibot
SciCrunch record: RRID:SCR_024703
RRID:SCR_022841
DOI: 10.1186/s12014-026-09646-9
Resource: PEAKS Studio (RRID:SCR_022841)
Curator: @scibot
SciCrunch record: RRID:SCR_022841
RRID:SCR_026162
DOI: 10.1186/s12014-026-09646-9
Resource: TRUST4 (RRID:SCR_026162)
Curator: @scibot
SciCrunch record: RRID:SCR_026162
RRID:SCR_005026
DOI: 10.1186/s12014-026-09646-9
Resource: SMART (RRID:SCR_005026)
Curator: @scibot
SciCrunch record: RRID:SCR_005026
RRID:SCR_012780
DOI: 10.1186/s12014-026-09646-9
Resource: IMGT - the international ImMunoGeneTics information system (RRID:SCR_012780)
Curator: @scibot
SciCrunch record: RRID:SCR_012780
RRID:SCR_002873
DOI: 10.1186/s12014-026-09646-9
Resource: IgBLAST (RRID:SCR_002873)
Curator: @scibot
SciCrunch record: RRID:SCR_002873
RRID:SCR_025747
DOI: 10.1136/jitc-2026-016242
Resource: Augusta University Georgia Cancer Center Flow and Mass Cytometry Core Facility (RRID:SCR_025747)
Curator: @scibot
SciCrunch record: RRID:SCR_025747
RRID:CVCL_9773
DOI: 10.1126/science.aee5093
Resource: (RRID:CVCL_9773)
Curator: @scibot
SciCrunch record: RRID:CVCL_9773
RRID:CVCL_9771
DOI: 10.1126/science.aee5093
Resource: (RRID:CVCL_9771)
Curator: @scibot
SciCrunch record: RRID:CVCL_9771
SCR_017924
DOI: 10.1126/science.aed2525
Resource: University of California, Berkeley Biosciences Divisional Services Cell Culture Core Facility (RRID:SCR_017924)
Curator: @scibot
SciCrunch record: RRID:SCR_017924
RRID:AB_621842
DOI: 10.1126/sciadv.aei2661
Resource: (LI-COR Biosciences Cat# 926-32210, RRID:AB_621842)
Curator: @scibot
SciCrunch record: RRID:AB_621842
RRID:AB_2189809
DOI: 10.1126/sciadv.aei2661
Resource: (Synaptic Systems Cat# 131 103CpH, RRID:AB_2189809)
Curator: @scibot
SciCrunch record: RRID:AB_2189809
RRID:AB_2715510
DOI: 10.1126/sciadv.aei2661
Resource: (LI-COR Biosciences Cat# 925-32213, RRID:AB_2715510)
Curator: @scibot
SciCrunch record: RRID:AB_2715510
RRID:AB_2535812
DOI: 10.1126/sciadv.aei2661
Resource: (Molecular Probes Cat# A-21244, RRID:AB_2535812)
Curator: @scibot
SciCrunch record: RRID:AB_2535812
RRID:AB_778192
DOI: 10.1126/sciadv.aei2661
Resource: (Abcam Cat# ab32942, RRID:AB_778192)
Curator: @scibot
SciCrunch record: RRID:AB_778192
RRID:AB_1961591
DOI: 10.1126/sciadv.aei2661
Resource: (Rockland Cat# 712-101-002, RRID:AB_1961591)
Curator: @scibot
SciCrunch record: RRID:AB_1961591
RRID:AB_143165
DOI: 10.1126/sciadv.aei2661
Resource: (Thermo Fisher Scientific Cat# A-11008, RRID:AB_143165)
Curator: @scibot
SciCrunch record: RRID:AB_143165
RRID:AB_2534017
DOI: 10.1126/sciadv.aei2661
Resource: (Thermo Fisher Scientific Cat# A10042, RRID:AB_2534017)
Curator: @scibot
SciCrunch record: RRID:AB_2534017
RRID:AB_2629215
DOI: 10.1126/sciadv.aei2661
Resource: (ChromoTek Cat# gba647n-100, RRID:AB_2629215)
Curator: @scibot
SciCrunch record: RRID:AB_2629215
RRID:AB_11153959
DOI: 10.1126/sciadv.aei2661
Resource: (Thermo Fisher Scientific Cat# PA5-20444, RRID:AB_11153959)
Curator: @scibot
SciCrunch record: RRID:AB_11153959
RRID:Addgene_32601
DOI: 10.1126/sciadv.aei2661
Resource: RRID:Addgene_32601
Curator: @scibot
SciCrunch record: RRID:Addgene_32601
RRID:Addgene_40755
DOI: 10.1126/sciadv.aei2661
Resource: RRID:Addgene_40755
Curator: @scibot
SciCrunch record: RRID:Addgene_40755
RRID:IMSR_JAX:007788
DOI: 10.1126/sciadv.aei2661
Resource: (IMSR Cat# JAX_007788,RRID:IMSR_JAX:007788)
Curator: @scibot
SciCrunch record: RRID:IMSR_JAX:007788
RRID:Addgene_178330
DOI: 10.1126/sciadv.aei2661
Resource: RRID:Addgene_178330
Curator: @scibot
SciCrunch record: RRID:Addgene_178330
RRID:Addgene_54560
DOI: 10.1126/sciadv.aei2661
Resource: RRID:Addgene_54560
Curator: @scibot
SciCrunch record: RRID:Addgene_54560
RRID:Addgene_182868
DOI: 10.1126/sciadv.aei2661
Resource: RRID:Addgene_182868
Curator: @scibot
SciCrunch record: RRID:Addgene_182868
RRID:AB_2619877
DOI: 10.1126/sciadv.aei2661
Resource: (Synaptic Systems Cat# 182 411C3, RRID:AB_2619877)
Curator: @scibot
SciCrunch record: RRID:AB_2619877
RRID:AB_2619757
DOI: 10.1126/sciadv.aei2661
Resource: (Synaptic Systems Cat# 104 211C5, RRID:AB_2619757)
Curator: @scibot
SciCrunch record: RRID:AB_2619757
RRID:Addgene_29520
DOI: 10.1126/sciadv.aeg9162
Resource: RRID:Addgene_29520
Curator: @scibot
SciCrunch record: RRID:Addgene_29520
AB_331284
DOI: 10.1113/JP291898
Resource: (Cell Signaling Technology Cat# 3033, RRID:AB_331284)
Curator: @scibot
SciCrunch record: RRID:AB_331284
AB_776753
DOI: 10.1113/JP291898
Resource: (Abcam Cat# ab19870, RRID:AB_776753)
Curator: @scibot
SciCrunch record: RRID:AB_776753
AB_775978
DOI: 10.1113/JP291898
Resource: (Abcam Cat# ab24170, RRID:AB_775978)
Curator: @scibot
SciCrunch record: RRID:AB_775978
AB_10973901
DOI: 10.1113/JP291898
Resource: (Abcam Cat# ab125066, RRID:AB_10973901)
Curator: @scibot
SciCrunch record: RRID:AB_10973901
AB_2137703
DOI: 10.1113/JP291898
Resource: (Cell Signaling Technology Cat# 4108, RRID:AB_2137703)
Curator: @scibot
SciCrunch record: RRID:AB_2137703
AB_2715528
DOI: 10.1113/JP291898
Resource: (Cell Signaling Technology Cat# 12721, RRID:AB_2715528)
Curator: @scibot
SciCrunch record: RRID:AB_2715528
AB_2159920
DOI: 10.1113/JP291898
Resource: (Cell Signaling Technology Cat# 4211, RRID:AB_2159920)
Curator: @scibot
SciCrunch record: RRID:AB_2159920
AB_305641
DOI: 10.1113/JP291898
Resource: (Abcam Cat# ab6671, RRID:AB_305641)
Curator: @scibot
SciCrunch record: RRID:AB_305641
AB_11179069
DOI: 10.1113/JP291898
Resource: (Cell Signaling Technology Cat# 6946, RRID:AB_11179069)
Curator: @scibot
SciCrunch record: RRID:AB_11179069
AB_2268462
DOI: 10.1113/JP291898
Resource: (Millipore Cat# AB3242, RRID:AB_2268462)
Curator: @scibot
SciCrunch record: RRID:AB_2268462
AB_2629281
DOI: 10.1113/JP291898
Resource: (Abcam Cat# ab110413, RRID:AB_2629281)
Curator: @scibot
SciCrunch record: RRID:AB_2629281
AB_2732888
DOI: 10.1113/JP291898
Resource: (Cell Signaling Technology Cat# 46743, RRID:AB_2732888)
Curator: @scibot
SciCrunch record: RRID:AB_2732888
Case#: Downes_2019_BSS, male, age unknown, South-Asian ancestry reported
DiseaseAssertion: BSS
FamilyInfo: NR
ParentalGenotype: NR
CasePresentingHPOs: NR
PlateletAggregation: NR
CaseHPOFreeText: NR
CaseNotHPOs:
CaseNotHPOFreeText:
ProteinExpression: NR
CasePreviousTesting:
GenotypingMethod: HTS panel described in supplementary table 3
PreviouslyPublished:
Gene: ITGA2B
Variant: homozygous c.1005_1013del (p.His335_Leu338delinsGln)
HGVS: NM_000419.5(ITGA2B):c.1005_1013del
ClinVarID: 626948
CAID:
gnomAD: not found in v.2.1.1
MultipleGeneVariants:
Adult woman/France
Case5: Woman (adult), age not specified, France
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
ProteinExpression: Variant GT; therefore, 50% expression alphaIIbbeta3 (See Table 4)
Platelet Aggregation: N/A
CasePreviousTesting: N/A
Gene: ITGB3
Variant: NM_000212.2:c.2227_2229CTC (p.Leu744del)
LegacyVariant: (p.Leu718del)
ClinVar: 627279
CAiD: CA915940812
gnomAD N/A
PreviouslyPublished: PMID: 29296966
RRID:SCR_008394
DOI: 10.1111/joa.70262
Resource: Python Programming Language (RRID:SCR_008394)
Curator: @scibot
SciCrunch record: RRID:SCR_008394
RRID:SCR_027845
DOI: 10.1111/joa.70262
Resource: RRID:SCR_027845
Curator: @scibot
SciCrunch record: RRID:SCR_027845
RRID:AB_2631447
DOI: 10.1111/jnc.70573
Resource: (Abcam Cat# ab150120, RRID:AB_2631447)
Curator: @scibot
SciCrunch record: RRID:AB_2631447
RRID:AB_3069902
DOI: 10.1111/jnc.70573
Resource: RRID:AB_3069902
Curator: @scibot
SciCrunch record: RRID:AB_3069902
RRID:AB_2636859
DOI: 10.1111/jnc.70573
Resource: (Abcam Cat# ab178846, RRID:AB_2636859)
Curator: @scibot
SciCrunch record: RRID:AB_2636859
RRID:AB_2571567
DOI: 10.1111/jnc.70573
Resource: (Millipore Cat# MABN140, RRID:AB_2571567)
Curator: @scibot
SciCrunch record: RRID:AB_2571567
RRID:AB_2336790
DOI: 10.1111/jnc.70573
Resource: (Vector Laboratories Cat# H-1200, RRID:AB_2336790)
Curator: @scibot
SciCrunch record: RRID:AB_2336790
RRID:AB_3069729
DOI: 10.1111/jnc.70573
Resource: RRID:AB_3069729
Curator: @scibot
SciCrunch record: RRID:AB_3069729
RRID:SCR_002798
DOI: 10.1111/jnc.70573
Resource: GraphPad Prism (RRID:SCR_002798)
Curator: @scibot
SciCrunch record: RRID:SCR_002798
RRID:AB_3069616
DOI: 10.1111/jnc.70573
Resource: RRID:AB_3069616
Curator: @scibot
SciCrunch record: RRID:AB_3069616
RRID:SCR_002285
DOI: 10.1111/jnc.70573
Resource: Fiji (RRID:SCR_002285)
Curator: @scibot
SciCrunch record: RRID:SCR_002285
RRID:AB_3069776
DOI: 10.1111/jnc.70573
Resource: RRID:AB_3069776
Curator: @scibot
SciCrunch record: RRID:AB_3069776
RRID:AB_2904020
DOI: 10.1111/jnc.70573
Resource: (Servicebio Cat# GB23301, RRID:AB_2904020)
Curator: @scibot
SciCrunch record: RRID:AB_2904020
RRID:AB_3069780
DOI: 10.1111/jnc.70573
Resource: RRID:AB_3069780
Curator: @scibot
SciCrunch record: RRID:AB_3069780
RRID:AB_2811189
DOI: 10.1111/jnc.70573
Resource: (Servicebio Cat# GB23303, RRID:AB_2811189)
Curator: @scibot
SciCrunch record: RRID:AB_2811189
RRID:AB_2285950
DOI: 10.1111/jnc.70573
Resource: (Abcam Cat# ab43606, RRID:AB_2285950)
Curator: @scibot
SciCrunch record: RRID:AB_2285950
RRID:AB_2630358
DOI: 10.1111/jnc.70573
Resource: (Abcam Cat# ab181602, RRID:AB_2630358)
Curator: @scibot
SciCrunch record: RRID:AB_2630358
RRID:AB_1209224
DOI: 10.1111/jnc.70573
Resource: (Abcam Cat# ab68428, RRID:AB_1209224)
Curator: @scibot
SciCrunch record: RRID:AB_1209224
RRID:SCR_002285
DOI: 10.1111/jnc.70548
Resource: Fiji (RRID:SCR_002285)
Curator: @scibot
SciCrunch record: RRID:SCR_002285
RRID:SCR_002798
DOI: 10.1111/jnc.70548
Resource: GraphPad Prism (RRID:SCR_002798)
Curator: @scibot
SciCrunch record: RRID:SCR_002798
RRID:SCR_003095
DOI: 10.1111/jnc.70548
Resource: Primer-BLAST (RRID:SCR_003095)
Curator: @scibot
SciCrunch record: RRID:SCR_003095
RRID:SCR_016137
DOI: 10.1111/jnc.70548
Resource: Microsoft Excel (RRID:SCR_016137)
Curator: @scibot
SciCrunch record: RRID:SCR_016137
SCR_021713
DOI: 10.1111/eva.70348
Resource: University of Texas at Austin Genomic Sequencing and Analysis Core Facility (RRID:SCR_021713)
Curator: @scibot
SciCrunch record: RRID:SCR_021713
RRID:AB_92249
DOI: 10.1111/ejn.70745
Resource: (Millipore Cat# AB758, RRID:AB_92249)
Curator: @scibot
SciCrunch record: RRID:AB_92249
RRID:AB_880202
DOI: 10.1111/ejn.70745
Resource: (Abcam Cat# ab53554, RRID:AB_880202)
Curator: @scibot
SciCrunch record: RRID:AB_880202
RRID:AB_535932
DOI: 10.1111/bph.70722
Resource: (Novus Cat# NB 100-2176, RRID:AB_535932)
Curator: @scibot
SciCrunch record: RRID:AB_535932
RRID:AB_2863810
DOI: 10.1111/bph.70722
Resource: (ABclonal Cat# AP0705, RRID:AB_2863810)
Curator: @scibot
SciCrunch record: RRID:AB_2863810
AB_2652336
DOI: 10.1111/bph.70722
Resource: RRID:AB_2652336
Curator: @scibot
SciCrunch record: RRID:AB_2652336
RRID:AB_2861642
DOI: 10.1111/bph.70722
Resource: (ABclonal Cat# A1192, RRID:AB_2861642)
Curator: @scibot
SciCrunch record: RRID:AB_2861642
RRID:AB_628496
DOI: 10.1111/bph.70722
Resource: (Santa Cruz Biotechnology Cat# sc-2359, RRID:AB_628496)
Curator: @scibot
SciCrunch record: RRID:AB_628496
RRID:AB_2661578
DOI: 10.1111/bph.70722
Resource: (Miltenyi Biotec Cat# 130-106-792, RRID:AB_2661578)
Curator: @scibot
SciCrunch record: RRID:AB_2661578