Cellosaurus cell line CSB-iPSC clone 1 (CVCL

Cross-references
Cell line name	CSB-iPSC clone 1
Synonyms	CSB-iPSC cl1
Accession	CVCL_L643
Resource Identification Initiative	To cite this cell line use: CSB-iPSC clone 1 (RRID:CVCL_L643)
Comments	From: University of California, San Diego; San Diego; USA. Population: Mexican. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (PubMed=22661500).
Disease	De Sanctis-Cacchione syndrome (NCIt: C84666) De Sanctis-Cacchione syndrome (ORDO: Orphanet_1569)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_F146 (GM10903)
Sex of cell	Female
Age at sampling	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=22661500; DOI=10.1093/hmg/dds211; PMCID=PMC3412382 de Sousa Andrade L.N., Nathanson J.L., Yeo G.W., Menck C.F.M., Muotri A.R. Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome. Hum. Mol. Genet. 21:3825-3834(2012)
Encyclopedic resources	Wikidata; Q54814559
Entry history
Entry creation	06-May-2013
Last entry update	19-Dec-2024
Version number	17