ID   GM10666
AC   CVCL_N153
SY   GM17026
DR   CLO; CLO_0014702
DR   CLO; CLO_0024592
DR   BioSample; SAMN00800140
DR   Coriell; GM10666
DR   Coriell; GM17026
DR   Wikidata; Q54844582
RX   CelloPub=CLPUB00447;
RX   PubMed=10051646;
CC   Part of: Human variation panel.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 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   Female
AG   37Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=10051646; DOI=10.1073/pnas.96.5.2356; PMCID=PMC26788;
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).
//