Cellosaurus cell line GM17885 (CVCL

Cross-references
Cell line name	GM17885
Accession	CVCL_IJ34
Resource Identification Initiative	To cite this cell line use: GM17885 (RRID:CVCL_IJ34)
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.Gly308Arg (c.922G>A); ClinVar=VCV000267310; Zygosity=Heterozygous (PubMed=28649545). Mutation; HGNC; HGNC:2518; CTNS; Unexplicit; Ex1-10del (nsv1067862) (57-KB DEL); ClinVar=VCV000004445; Zygosity=Heterozygous (PubMed=28649545).
Disease	Nephropathic cystinosis (NCIt: C129932) Nephropathic infantile cystinosis (ORDO: Orphanet_411629)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	9Y
Category	Finite cell line
Publications	PubMed=28649545; DOI=10.1016/j.ymgmr.2015.10.007; PMCID=PMC5471396 Artem Zykovich, Renee Kinkade, Gary Royal, Todd Zankel; CTNS mutations in publicly-available human cystinosis cell lines. Mol. Genet. Metab. Rep. 5:63-66(2015)
Cell line collections (Providers)	Coriell; GM17885
Cell line databases/resources	CLO; CLO_0016139
Encyclopedic resources	Wikidata; Q54849299
Entry history
Entry creation	01-Dec-2016
Last entry update	19-Dec-2024
Version number	12