ID   WS0101
AC   CVCL_A7BT
DR   Wikidata; Q107117487
RX   PubMed=9365237;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Heterozygous (PubMed=9365237).
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Arg1305Ter (c.3913C>T) (c.4144C>T); ClinVar=VCV000005444; Zygosity=Heterozygous (PubMed=9365237).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_902; Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Transformed cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=9365237; DOI=10.1038/sj.onc.1201377;
RA   Tahara H., Tokutake Y., Maeda S., Kataoka H., Watanabe T., Satoh M.,
RA   Matsumoto T., Sugawara M., Ide T., Goto M., Furuichi Y., Sugimoto M.;
RT   "Abnormal telomere dynamics of B-lymphoblastoid cell strains from
RT   Werner's syndrome patients transformed by Epstein-Barr virus.";
RL   Oncogene 15:1911-1920(1997).
//