• Mutation; HGNC; HGNC:12791; WRN; Simple; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=26984941).
  

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

PubMed=10615119; DOI=10.1038/71630
Fiona S. Wyllie, Christopher J. Jones, Julia W. Skinner, Michele F. Haughton, Corrin Wallis, David Wynford-Thomas, Richard G.A. Faragher, David Kipling;
Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts.
Nat. Genet. 24:16-17(2000)

PubMed=19966276; DOI=10.1093/nar/gkp1103; PMCID=PMC2831322
Jay E. Johnson, Ka-Jia Cao, Paul Ryvkin, Li-San Wang, F. Brad Johnson;
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential.
Nucleic Acids Res. 38:1114-1122(2010)

PubMed=24749076; DOI=10.1016/j.stemcr.2014.02.006; PMCID=PMC3986587
Hoi-Hung Cheung, Xiao-Zhuo Liu, Lucile Canterel-Thouennon, Lu Li, Catherine Edmonson, Owen Murray Rennert;
Telomerase protects Werner syndrome lineage-specific stem cells from premature aging.
Stem Cell Reports 2:534-546(2014)

PubMed=26984941; DOI=10.1093/hmg/ddw079; PMCID=PMC5062591
Wei-Liang Tang, Ana I. Robles, Richard P. Beyer, Lucas T. Graybuck, Giang Huong Nguyen, Junko Oshima, Nancy Maizels, Curtis Craig Harris, Raymond J. Monnat Jr.;
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.
Hum. Mol. Genet. 25:2060-2069(2016)