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Cellosaurus GM29345 (CVCL_F0YZ)

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Cell line name GM29345
Accession CVCL_F0YZ
Resource Identification Initiative To cite this cell line use: GM29345 (RRID:CVCL_F0YZ)
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:3151; ECHS1; Simple; p.Ala173Val (c.518C>T); ClinVar=VCV000377257; Zygosity=Heterozygous (Coriell=GM29345).
  • Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Gly175Ser (c.523G>A); ClinVar=VCV001300726; Zygosity=Heterozygous (Coriell=GM29345).
Disease Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (NCIt: C174218)
Leigh syndrome with leukodystrophy (ORDO: Orphanet_255241)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29345
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1