ID   A0031
AC   CVCL_T338
DR   CLO; CLO_0050704
DR   RCB; GMC0012
DR   Wikidata; Q54606193
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.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_902; Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_T339 ! B0031
SX   Male
AG   37Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 20-05-21; 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).
//