ID   GM17472
AC   CVCL_4F79
DR   CLO; CLO_0012929
DR   Coriell; GM17472
DR   Wikidata; Q54848909
CC   Sequence variation: Mutation; HGNC; HGNC:90; ACADS; Simple; p.Arg171Trp (c.511C>T) (R147W); ClinVar=VCV000003830; Zygosity=Heterozygous (Coriell=GM17472).
CC   Sequence variation: Mutation; HGNC; HGNC:90; ACADS; Simple; p.Gly209Ser (c.625G>A) (G185S); ClinVar=VCV000003831; Zygosity=Heterozygous (Coriell=GM17472).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84539; Acyl-CoA dehydrogenase, short-chain deficiency
DI   ORDO; Orphanet_26792; Short chain acyl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 15
//