ID   GM25184
AC   CVCL_HL25
DR   Coriell; GM25184
DR   Wikidata; Q54853839
CC   Sequence variation: Mutation; HGNC; HGNC:89; ACADM; Simple; p.Lys329Glu (c.985A>G); ClinVar=VCV000003586; Zygosity=Homozygous (Coriell=GM25184).
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   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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