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Cellosaurus CSB-iPSC clone 2 (CVCL_L644)

[Text version]
Cell line name CSB-iPSC clone 2
Synonyms CSB-iPSC cl2
Accession CVCL_L644
Resource Identification Initiative To cite this cell line use: CSB-iPSC clone 2 (RRID:CVCL_L644)
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; 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)

Cross-references
Encyclopedic resources Wikidata; Q54814560
Entry history
Entry creation06-May-2013
Last entry update10-Sep-2024
Version number16