ID   GM02894
AC   CVCL_F604
SY   GM 2894; GM2894
DR   CLO; CLO_0012809
DR   Coriell; GM02894
DR   Wikidata; Q54837742
RX   CelloPub=CLPUB00447;
RX   PubMed=9792862;
CC   Sequence variation: Mutation; HGNC; 2518; CTNS; Unexplicit; Ex1-10del (nsv1067862) (57-KB DEL); ClinVar=VCV000004445; Zygosity=Homozygous (PubMed=9792862).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C129932; Nephropathic cystinosis
DI   ORDO; Orphanet_411629; Nephropathic infantile cystinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 17
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=9792862; DOI=10.1086/302118; PMCID=PMC1377545;
RA   Shotelersuk V., Larson D., Anikster Y., McDowell G., Lemons R.,
RA   Bernardini I., Guo J.-R., Thoene J., Gahl W.A.;
RT   "CTNS mutations in an American-based population of cystinosis
RT   patients.";
RL   Am. J. Hum. Genet. 63:1352-1362(1998).
//