• Mutation; HGNC; HGNC:12791; WRN; Simple; p.Gln748Ter (c.2242C>T) (2476C>T); ClinVar=VCV000835212; Zygosity=Homozygous (Coriell=AG03141).
  

CLPUB00387
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Das N.K., Murphy D.G.
The National Institute on Aging repository cell cultures.
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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
Wyllie F.S., Jones C.J., Skinner J.W., Haughton M.F., Wallis C., Wynford-Thomas D., Faragher R.G.A., Kipling D.
Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts.
Nat. Genet. 24:16-17(2000)

PubMed=10655550; DOI=10.1093/hmg/9.3.403
Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000)

PubMed=16339323; DOI=10.1093/gerona/60.11.1386
Davis T., Baird D.M., Haughton M.F., Jones C.J., Kipling D.
Prevention of accelerated cell aging in Werner syndrome using a p38 mitogen-activated protein kinase inhibitor.
J. Gerontol., A, Biol. Sci. Med. Sci. 60:1386-1393(2005)

PubMed=24749076; DOI=10.1016/j.stemcr.2014.02.006; PMCID=PMC3986587
Cheung H.-H., Liu X.-Z., Canterel-Thouennon L., Li L., Edmonson C., Rennert O.M.
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
Tang W.-L., Robles A.I., Beyer R.P., Graybuck L.T., Nguyen G.H., Oshima J., Maizels N., Harris C.C., Monnat R.J. Jr.
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.
Hum. Mol. Genet. 25:2060-2069(2016)