ID   GM28472
AC   CVCL_D6XP
DR   Coriell; GM28472
CC   Population: Jewish; Syrian.
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Cys225Arg (c.673T>C); ClinVar=VCV001691714; Zygosity=Homozygous (Coriell=GM28472).
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   3Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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