ID   GM07843
AC   CVCL_CW81
DR   CLO; CLO_0010258
DR   Coriell; GM07843
DR   Wikidata; Q54842957
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4801; HADHA; Simple; p.Glu510Gln (c.1528G>C); ClinVar=VCV000100085; Zygosity=Homozygous (Coriell=GM07843).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C129929; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
DI   ORDO; Orphanet_5; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 13
//
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).
//