ID   GM05872
AC   CVCL_4F51
DR   CLO; CLO_0024231
DR   Coriell; GM05872
DR   Wikidata; Q54841970
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 89; ACADM; Simple; p.Lys329Glu (c.985A>G); ClinVar=VCV000003586; Zygosity=Homozygous (Coriell=GM05872).
CC   Cell type: Fibroblast; CL=CL_0000057.
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   1Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//