2 Matching Annotations
  1. Oct 2026
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease
    1
    1. ClingenBaseline 24 Oct 2026
      UNIGEi001-A

      Case#:UNIGEi001-A, 2-year-old, Male, Caucasian, MPS1-H diagnosed by Division of Metabolism and Children's Research Center of University Children's Hospital of Zürich (Switzerland) DiseaseAssertion:MPS1-H FamilyInfo: N/A CasePresentingHPOs: N/A CaseHPOFreeText: N/A CaseNotHPOs: N/A CaseNotHPOFreeText: N/A CaseEnzymeAssay: N/A CaseUrineGAGs: N/A CaseERT: Don't know CaseBMT: Don't know Variant1: NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) Variant1ClinVarID: 557260 Variant1CAID: CA658823289 Variant2: NM_000203.4(IDUA):c.1205 G>A (p.Trp402Ter) Variant2ClinVarID: 11908 Variant2CAID: CA220498 AdditionalVariants: N/A ParentalGenotype: N/A PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:11908 ClinVarID:557260 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S187350611930234X
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors
    1
    1. ClingenBaseline 21 Oct 2026
      2-year-old male MPS1-H child

      Case#: Male, 2-year old

      DiseaseAssertion: MPS1-H

      FamilyInfo: Not provided

      CasePresentingHPOs: Not provided

      CaseHPOFreeText: NA

      CaseNotHPOs: Not provided

      CaseNotHPOFreeText: NA

      CaseEnzymeAssay: MPS1-H fibroblasts exhibited no activity of IDUAα (0.01 ± 0.02 nmol/mg/min); iPSC clones were devoid of IDUAα activity

      CaseUrineGAGs: Not provided

      CaseERT: Don't know

      CaseBMT: Don't know

      Variant1: NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)

      Variant1ClinVarID:557260

      Variant1CAID:

      Variant2: NM_000203.4(IDUA):c.1205 G>A (p.Trp402Ter)

      Variant2ClinVarID:11908

      Variant2CAID:

      ParentalGenotype: Not provided

      PreviouslyPublished: Authors reference [30]: PMID: 31678774 DOI: 10.1016/j.scr.2019.101604

      Gene:IDUA HGNC:5391 Mutation:Inframe Mutation:Nonsense PMC:PMC7761689 InheritancePattern:AutosomalRecessive DiseaseEntity:MPS1 ClinVarID:557260 ClinVarID:11908 Zygosity:CompoundHeterozygous inferred_gene_hgnc:5391 inferred_gene_source:hgnc_tag IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC7761689/