ID   GM17470
AC   CVCL_4F77
DR   CLO; CLO_0012924
DR   Coriell; GM17470
DR   Wikidata; Q54848907
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:90; ACADS; Simple; p.Arg107Cys (c.319C>T); ClinVar=VCV000003826; Zygosity=Homozygous (Coriell=GM17470).
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   9M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//