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Cellosaurus (CVCL_JL96)

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Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7577; MYH7; Simple_edited; p.Arg403Leu (c.1208G>T); ClinVar=VCV000014101; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33610018).
Disease Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_JL97 (JK28)
Sex of cell Female
Age at sampling 52Y
Category Induced pluripotent stem cell
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6