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    ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs
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    1. ClingenBaseline 24 Oct 2026
      21-year-old male patient

      Case1: 21 year old, male patient, bearing a F8 frameshift mutation with severe Hemophilia A.

      DiseaseAssertion: Severe Hemophilia A

      Variant: NM_000132.3:c.3167del

      ClinVar: Not noted in ClinVar

      CAID: CA915940211 (Previously not registered)

      DiseaseEntity: Factor VIII deficiency

      Inheritance Pattern: No inheritance assertion

      CaseIndividual CAiD:CA915940211 DiseaseEntity:FactorVIIIDeficiency InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6610636/