ID   B0031
AC   CVCL_T339
DR   CLO; CLO_0050481
DR   RCB; GMC0005
DR   Wikidata; Q54752176
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12791; WRN; Simple; p.Arg369Ter (c.1105C>T) (c.1336C>T); ClinVar=VCV000005449; Zygosity=Heterozygous (from autologous cell line).
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 (from autologous cell line).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_902; Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_T338 ! A0031
SX   Male
AG   37Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 20-05-21; Version: 11
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