ID   GM23496
AC   CVCL_4F84
DR   Coriell; GM23496
DR   Wikidata; Q54853116
CC   Sequence variation: Mutation; HGNC; HGNC:89; ACADM; Simple; p.Lys329Glu (c.985A>G); ClinVar=VCV000003586; Zygosity=Homozygous (Coriell=GM23496).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84538; Medium-chain acyl-CoA dehydrogenase deficiency
DI   ORDO; Orphanet_42; Medium chain acyl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_4F83 ! GM23495
SX   Female
AG   8M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
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