ID   ZM90634
AC   CVCL_VI23
DR   Wikidata; Q54995967
RX   PubMed=10606667;
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=10606667).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=10606667; DOI=10.1093/nar/28.2.648; PMCID=PMC102521;
RA   Moser M.J., Kamath-Loeb A.S., Jacob J.E., Bennett S.E., Oshima J.,
RA   Monnat R.J. Jr.;
RT   "WRN helicase expression in Werner syndrome cell lines.";
RL   Nucleic Acids Res. 28:648-654(2000).
//