ID   CSB-iPSC clone 1
AC   CVCL_L643
SY   CSB-iPSC cl1
DR   Wikidata; Q54814559
RX   PubMed=22661500;
CC   From: University of California, San Diego; San Diego; USA.
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (PubMed=22661500).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84666; De Sanctis-Cacchione syndrome
DI   ORDO; Orphanet_1569; De Sanctis-Cacchione syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F146 ! GM10903
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 06-05-13; Last updated: 10-09-24; Version: 16
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RX   PubMed=22661500; DOI=10.1093/hmg/dds211; PMCID=PMC3412382;
RA   de Sousa Andrade L.N., Nathanson J.L., Yeo G.W., Menck C.F.M.,
RA   Muotri A.R.;
RT   "Evidence for premature aging due to oxidative stress in iPSCs from
RT   Cockayne syndrome.";
RL   Hum. Mol. Genet. 21:3825-3834(2012).
//