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

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
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(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0
Nirmal K. Das, Donald G. Murphy;
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981)

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=10655550; DOI=10.1093/hmg/9.3.403
Michel M. Ouellette, Lisa D. McDaniel, Woodring Erik Wright, Jerry W. Shay, Roger A. Schultz;
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
Terence Davis, Duncan M. Baird, Michele F. Haughton, Christopher J. Jones, David Kipling;
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
Hoi-Hung Cheung, Xiao-Zhuo Liu, Lucile Canterel-Thouennon, Lu Li, Catherine Edmonson, Owen M. 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)