Cellosaurus logo
expasy logo

Cellosaurus GM29095 (CVCL_F0U0)

[Text][XML][JSON]
Cell line name GM29095
Accession CVCL_F0U0
Resource Identification Initiative To cite this cell line use: GM29095 (RRID:CVCL_F0U0)
Comments Population: Caucasian; Hungarian.
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.Lys273Glu (c.817A>G); ClinVar=VCV000372596; Zygosity=Heterozygous (Coriell=GM29095).
  • Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Gln159Arg (C.476A>G); ClinVar=VCV000379794; Zygosity=Heterozygous (Coriell=GM29095).
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 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29095
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1