ID   GM17885
AC   CVCL_IJ34
DR   CLO; CLO_0016139
DR   Coriell; GM17885
DR   Wikidata; Q54849299
RX   PubMed=28649545;
CC   Sequence variation: Mutation; HGNC; HGNC:2518; CTNS; Simple; p.Gly308Arg (c.922G>A); ClinVar=VCV000267310; Zygosity=Heterozygous (PubMed=28649545).
CC   Sequence variation: Mutation; HGNC; HGNC:2518; CTNS; Unexplicit; Ex1-10del (nsv1067862) (57-KB DEL); ClinVar=VCV000004445; 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; C129932; Nephropathic cystinosis
DI   ORDO; Orphanet_411629; Nephropathic infantile cystinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
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).
//