ID   GM23495
AC   CVCL_4F83
DR   Coriell; GM23495
DR   Wikidata; Q54853115
CC   Sequence variation: Mutation; HGNC; HGNC:89; ACADM; Simple; p.Lys329Glu (c.985A>G); ClinVar=VCV000003586; Zygosity=Homozygous (Coriell=GM23495).
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)
OI   CVCL_4F84 ! GM23496
SX   Female
AG   8M
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
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