Cellosaurus cell line GM08761 (CVCL

Cross-references
Cell line name	GM08761
Accession	CVCL_IJ37
Resource Identification Initiative	To cite this cell line use: GM08761 (RRID:CVCL_IJ37)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:2518; CTNS; Simple; p.Gly197Arg (c.589G>A); ClinVar=VCV000004451; Zygosity=Heterozygous (PubMed=28649545). Mutation; HGNC; HGNC:2518; CTNS; Unexplicit; Ex1-10del (nsv1067862) (57-KB DEL); ClinVar=VCV000004445; Zygosity=Heterozygous (PubMed=28649545).
Disease	Cystinosis (NCIt: C2976) Ocular cystinosis (ORDO: Orphanet_411641)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	43Y
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=28649545; DOI=10.1016/j.ymgmr.2015.10.007; PMCID=PMC5471396 Zykovich A., Kinkade R., Royal G., Zankel T. CTNS mutations in publicly-available human cystinosis cell lines. Mol. Genet. Metab. Rep. 5:63-66(2015)
Cell line collections (Providers)	Coriell; GM08761
Cell line databases/resources	CLO; CLO_0010493
Biological sample resources	BioSample; SAMN00798168
Encyclopedic resources	Wikidata; Q54843268
Entry history
Entry creation	01-Dec-2016
Last entry update	19-Dec-2024
Version number	13