ID   GM29345
AC   CVCL_F0YZ
DR   Coriell; GM29345
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Ala173Val (c.518C>T); ClinVar=VCV000377257; Zygosity=Heterozygous (Coriell=GM29345).
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Gly175Ser (c.523G>A); ClinVar=VCV001300726; Zygosity=Heterozygous (Coriell=GM29345).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C174218; Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency
DI   ORDO; Orphanet_255241; Leigh syndrome with leukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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