ID   WSCU01 iPS#14
AC   CVCL_IN42
SY   WSCU01 #14; WSCU01-derived iPSC clone 14
DR   Wikidata; Q54994445
RX   PubMed=25390333;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Arg369Ter (c.1105C>T) (c.1336C>T); ClinVar=VCV000005449; Zygosity=Heterozygous (PubMed=25390333).
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=25390333).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_902; Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_IN40 ! WSCU01 iPS#02
OI   CVCL_IN41 ! WSCU01 iPS#13
SX   Male
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
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RX   PubMed=25390333; DOI=10.1371/journal.pone.0112900; PMCID=PMC4229309;
RA   Shimamoto A., Kagawa H., Zensho K., Sera Y., Kazuki Y., Osaki M.,
RA   Oshimura M., Ishigaki Y., Hamasaki K., Kodama Y., Yuasa S., Fukuda K.,
RA   Hirashima K., Seimiya H., Koyama H., Shimizu T., Takemoto M.,
RA   Yokote K., Goto M., Tahara H.;
RT   "Reprogramming suppresses premature senescence phenotypes of Werner
RT   syndrome cells and maintains chromosomal stability over long-term
RT   culture.";
RL   PLoS ONE 9:E112900-E112900(2014).
//