ID   WS25401
AC   CVCL_A7FP
DR   Wikidata; Q107117522
RX   PubMed=10543396;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Ala1306Serfs*13 (c.3915dupA) (c.4146insA); ClinVar=VCV000005448; Zygosity=Homozygous (PubMed=10543396).
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   Female
AG   47Y
CA   Transformed cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
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).
//