ID   GM01763
AC   CVCL_L960
SY   GM-1763; GM00249
DR   CLO; CLO_0031007
DR   BioSample; SAMN00807145
DR   Coriell; GM00249
DR   Coriell; GM01763
DR   Wikidata; Q54837062
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2330; CPT2; Simple; p.Ser113Leu (c.439C>T); ClinVar=VCV000008953; Zygosity=Homozygous (Coriell=GM01763).
CC   Discontinued: Coriell; GM00249; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C114766; Carnitine palmitoyltransferase II deficiency
DI   ORDO; Orphanet_157; Carnitine palmitoyltransferase II deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 30-01-24; Version: 17
//
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).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//