ID   AG24465
AC   CVCL_UY15
DR   Coriell; AG24465
DR   Wikidata; Q93323307
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Leu528Cysfs*29 (c.1578delC); ClinVar=VCV000624320; Zygosity=Heterozygous (Coriell=AG24465).
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Arg741Ter (c.2221C>T); ClinVar=VCV000528094; Zygosity=Heterozygous (Coriell=AG24465).
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   47Y
CA   Transformed cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
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