ID   SYR10011
AC   CVCL_VI15
SY   SYR 10011
DR   Wikidata; Q54971284
RX   PubMed=10606667;
CC   Population: Syrian.
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Gln1229fs*1246 (c.3688_3691delACAG); Zygosity=Homozygous (PubMed=10606667).
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   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 9
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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).
//