Cellosaurus cell line GM17888 (CVCL

Cross-references
Cell line name	GM17888
Accession	CVCL_IJ41
Resource Identification Initiative	To cite this cell line use: GM17888 (RRID:CVCL_IJ41)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2518; CTNS; Simple; p.Ile69Argfs*5 (c.206_210delTCCTT); ClinVar=VCV000455787; Zygosity=Heterozygous (PubMed=28649545). Mutation; HGNC; HGNC:2518; CTNS; Simple; c.853-3C>G (IVS11-3C>G); ClinVar=VCV000004449; 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	Male
Age at sampling	26Y
Category	Finite cell line
Publications	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)
Cell line collections (Providers)	Coriell; GM17888
Cell line databases/resources	CLO; CLO_0016150
Encyclopedic resources	Wikidata; Q54849302
Entry history
Entry creation	01-Dec-2016
Last entry update	19-Dec-2024
Version number	12