ID   GM17888
AC   CVCL_IJ41
DR   CLO; CLO_0016150
DR   Coriell; GM17888
DR   Wikidata; Q54849302
RX   PubMed=28649545;
CC   Sequence variation: Mutation; HGNC; HGNC:2518; CTNS; Simple; p.Ile69Argfs*5 (c.206_210delTCCTT); ClinVar=VCV000455787; Zygosity=Heterozygous (PubMed=28649545).
CC   Sequence variation: Mutation; HGNC; HGNC:2518; CTNS; Simple; c.853-3C>G (IVS11-3C>G); ClinVar=VCV000004449; Zygosity=Heterozygous (PubMed=28649545).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2976; Cystinosis
DI   ORDO; Orphanet_411641; Ocular cystinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   26Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=28649545; DOI=10.1016/j.ymgmr.2015.10.007; PMCID=PMC5471396;
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).
//