Cellosaurus cell line GM10665 (CVCL

Cross-references
Cell line name	GM10665
Synonyms	GM 10665
Accession	CVCL_0J44
Resource Identification Initiative	To cite this cell line use: GM10665 (RRID:CVCL_0J44)
Comments	Population: Indian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; 10969; SLC22A5; Simple; p.Arg282Ter (c.844C>T); ClinVar=VCV000006416; Zygosity=Homozygous (PubMed=10051646).
Disease	Primary carnitine deficiency (NCIt: C98864) Systemic primary carnitine deficiency (ORDO: Orphanet_158)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992) PubMed=10051646; DOI=10.1073/pnas.96.5.2356 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)
Cell line collections (Providers)	Coriell; GM10665
Cell line databases/resources	CLO; CLO_0024588
Biological sample resources	BioSample; SAMN00800138
Encyclopedic resources	Wikidata; Q54844581
Entry history
Entry creation	10-Apr-2015
Last entry update	29-Jun-2023
Version number	12