ID   N0102
AC   CVCL_A7DE
DR   Wikidata; Q107116483
RX   PubMed=9365237;
RX   PubMed=10543396;
CC   Population: Japanese.
CC   Senescence: Not immortalized; senesces at 80 PDL (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; PubMed=10543396).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   27Y
CA   Transformed cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
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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).
//
RX   PubMed=10543396; DOI=10.1007/s004399900151;
RA   Goto M., Yamabe Y., Shiratori M., Okada M., Kawabe T., Matsumoto T.,
RA   Sugimoto M., Furuichi Y.;
RT   "Immunological diagnosis of Werner syndrome by down-regulated and
RT   truncated gene products.";
RL   Hum. Genet. 105:301-307(1999).
//