ID   AG14425
AC   CVCL_U318
SY   JO1050
DR   CLO; CLO_0022316
DR   Coriell; AG14425
DR   Wikidata; Q54745179
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=Homozygous; Note=Splice acceptor mutation (Coriell=AG14425).
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   57Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 18
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