ID   AG14424
AC   CVCL_U317
SY   SUG17802
DR   CLO; CLO_0022317
DR   Coriell; AG14424
DR   Wikidata; Q54745177
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Arg889Ter (c.2665C>T); ClinVar=VCV000404045; Zygosity=Heterozygous (Coriell=AG14424).
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Unexplicit; Ex19-23del; Zygosity=Heterozygous (Coriell=AG14424).
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   45Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 16
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