ID   GM21192
AC   CVCL_4F82
DR   CLO; CLO_0015857
DR   Coriell; GM21192
DR   Wikidata; Q54851737
CC   Sequence variation: Mutation; HGNC; HGNC:89; ACADM; Simple; p.Lys329Glu (c.985A>G); ClinVar=VCV000003586; Zygosity=Homozygous (Coriell=GM21192).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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)
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//