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Cellosaurus GM10667 (CVCL_N154)

[Text version]
Cell line name GM10667
Synonyms GM17027
Accession CVCL_N154
Resource Identification Initiative To cite this cell line use: GM10667 (RRID:CVCL_N154)
Comments Part of: Human variation panel.
Population: Indian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 10969; SLC22A5; Simple; p.Arg282Ter (c.844C>T); ClinVar=VCV000006416; Zygosity=Heterozygous (PubMed=10051646).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 41Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=10051646; DOI=10.1073/pnas.96.5.2356; PMCID=PMC26788
Wang Y.-H., Ye J., Ganapathy V., Longo N.
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.
Proc. Natl. Acad. Sci. U.S.A. 96:2356-2360(1999)

Cross-references
Cell line collections (Providers) Coriell; GM10667
Coriell; GM17027
Cell line databases/resources CLO; CLO_0014700
CLO; CLO_0024610
Biological sample resources BioSample; SAMN00800142
Encyclopedic resources Wikidata; Q54844583
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number12