ID   GM10667
AC   CVCL_N154
SY   GM17027
DR   CLO; CLO_0014700
DR   CLO; CLO_0024610
DR   BioSample; SAMN00800142
DR   Coriell; GM10667
DR   Coriell; GM17027
DR   Wikidata; Q54844583
RX   CelloPub=CLPUB00447;
RX   PubMed=10051646;
CC   Part of: Human variation panel.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 10969; SLC22A5; Simple; p.Arg282Ter (c.844C>T); ClinVar=VCV000006416; Zygosity=Heterozygous (PubMed=10051646).
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   41Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; 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).
//
RX   PubMed=10051646; DOI=10.1073/pnas.96.5.2356;
RA   Wang Y.-H., Ye J., Ganapathy V., Longo N.;
RT   "Mutations in the organic cation/carnitine transporter OCTN2 in
RT   primary carnitine deficiency.";
RL   Proc. Natl. Acad. Sci. U.S.A. 96:2356-2360(1999).
//