2 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells
    2
    1. ClingenBaseline 23 Oct 2026

      Case#: Pt 5, age is 11 months (proband can be found in Table 1)

      DiseaseAssertion: Hurler syndrome, mucopolysaccharidosis type IH, MPS IH, MPS type I

      FamilyInfo: No family information provided

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: In methods it is stated that an IDUA activity assay was conducted on cartilaginous pellets generated from patient-derived bone marrow stromal cells at 5 weeks. However, results of the IDUA activity assays are not stated.

      CaseUrineGAGs: "Significantly higher levels of GAGs in MPS IH compared with HD pellets at.1 week of chondrogenic differentiation, thus indicating that GAG accumulation in MPS IH can be seen during cell condensation and early differentiation stages." Total GAG content for each sample in ug GAG/ug DNA shown in Figure 4 graphs.

      CaseERT: Don't know

      CaseBMT: Don't know

      Variant1: p.W402X

      Variant1ClinVarID:

      Variant1CAID: PA3051368272

      Variant2: p.W402X

      Variant2ClinVarID:

      Variant2CAID: PA3051368272

      AdditionalVariants: No additional variants mentioned

      ParentalGenotype: No parental information provided

      PreviouslyPublished: No mention of being previously published

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:PA3051368272 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026

      Case#: Pt 6, age is 18 months (proband can be found in Table 1)

      DiseaseAssertion: Hurler syndrome, mucopolysaccharidosis type IH, MPS IH, MPS type I

      FamilyInfo: No family information provided

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: In methods it is stated that an IDUA activity assay was conducted on cartilaginous pellets generated from patient-derived bone marrow stromal cells at 5 weeks. However, results of the IDUA activity assays are not stated.

      CaseUrineGAGs: "Significantly higher levels of GAGs in MPS IH compared with HD pellets at.1 week of chondrogenic differentiation, thus indicating that GAG accumulation in MPS IH can be seen during cell condensation and early differentiation stages." Total GAG content for each sample in ug GAG/ug DNA shown in Figure 4 graphs.

      CaseERT: Don't know

      CaseBMT: Don't know

      Variant1: p.W402X

      Variant1ClinVarID:

      Variant1CAID: PA3051368272

      Variant2: c.1163delC

      Variant2ClinVarID: 828094

      Variant2CAID: CA915942984

      AdditionalVariants: No additional variants mentioned

      ParentalGenotype: No parental information provided

      PreviouslyPublished: No mention of being previously published

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo ClinVarID:828094 CAID:PA3051368272 CAID:CA915942984 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10972592/