ID   GM08761
AC   CVCL_IJ37
DR   CLO; CLO_0010493
DR   BioSample; SAMN00798168
DR   Coriell; GM08761
DR   Wikidata; Q54843268
RX   CelloPub=CLPUB00447;
RX   PubMed=28649545;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2518; CTNS; Simple; p.Gly197Arg (c.589G>A); ClinVar=VCV000004451; Zygosity=Heterozygous (PubMed=28649545).
CC   Sequence variation: Mutation; HGNC; 2518; CTNS; Unexplicit; Ex1-10del (nsv1067862) (57-KB DEL); ClinVar=VCV000004445; Zygosity=Heterozygous (PubMed=28649545).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2976; Cystinosis
DI   ORDO; Orphanet_411641; Ocular cystinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   43Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 29-06-23; Version: 12
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=28649545; DOI=10.1016/j.ymgmr.2015.10.007;
RA   Zykovich A., Kinkade R., Royal G., Zankel T.;
RT   "CTNS mutations in publicly-available human cystinosis cell lines.";
RL   Mol. Genet. Metab. Rep. 5:63-66(2015).
//