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Cellosaurus GM08761 (CVCL_IJ37)

[Text version]
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; 2518; CTNS; Simple; p.Gly197Arg (c.589G>A); ClinVar=VCV000004451; Zygosity=Heterozygous (PubMed=28649545).
  • Mutation; 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)

Cross-references
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 creation01-Dec-2016
Last entry update29-Jun-2023
Version number12