ID   GM29095
AC   CVCL_F0U0
DR   Coriell; GM29095
CC   Population: Caucasian; Hungarian.
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Lys273Glu (c.817A>G); ClinVar=VCV000372596; Zygosity=Heterozygous (Coriell=GM29095).
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Gln159Arg (C.476A>G); ClinVar=VCV000379794; Zygosity=Heterozygous (Coriell=GM29095).
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   7Y
CA   Finite cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//