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

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
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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)

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Das N.K., Murphy D.G.
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
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)