ID   A0031 iPS#23
AC   CVCL_IN37
SY   A0031 #23; A0031-derived iPSC clone 23
DR   Wikidata; Q54606194
RX   PubMed=25390333;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12791; WRN; Simple; p.Arg369Ter (c.1105C>T) (c.1336C>T); ClinVar=VCV000005449; Zygosity=Heterozygous (PubMed=25390333).
CC   Sequence variation: Mutation; 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   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_902; Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_T338 ! A0031
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 17-03-22; Version: 10
//
RX   PubMed=25390333; DOI=10.1371/journal.pone.0112900;
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).
//