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Cellosaurus GM28472 (CVCL_D6XP)

[Text version]
Cell line name GM28472
Accession CVCL_D6XP
Resource Identification Initiative To cite this cell line use: GM28472 (RRID:CVCL_D6XP)
Comments Population: Jewish; Syrian.
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.Cys225Arg (c.673T>C); ClinVar=VCV001691714; Zygosity=Homozygous (Coriell=GM28472).
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 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28472
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2