ID   GM06127
AC   CVCL_7450
DR   CLO; CLO_0003533
DR   CLO; CLO_0023661
DR   CLDB; cl1500
DR   Coriell; GM06127
DR   Wikidata; Q54842185
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 92; ACADVL; Simple; c.1078_1182del105 (c.1182+1G>A); Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM06127).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98647; Very long-chain acyl-CoA dehydrogenase deficiency
DI   ORDO; Orphanet_26793; Very long chain acyl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3M
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 16
//
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).
//