• Mutation; HGNC; 12791; WRN; Simple; p.Arg369Ter (c.1105C>T) (c.1336C>T); ClinVar=VCV000005449; Zygosity=Homozygous (Coriell=GM00780).
  

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (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)

PubMed=7176709; DOI=10.1016/0047-6374(82)90061-6
Tollefsbol T.O., Zaun M.R., Gracy R.W.
Increased lability of triosephosphate isomerase in progeria and Werner's syndrome fibroblasts.
Mech. Ageing Dev. 20:93-101(1982)

PubMed=6223188; DOI=10.1016/0047-6374(83)90071-4
Chapman M.L., Zaun M.R., Gracy R.W.
Changes in NAD levels in human lymphocytes and fibroblasts during aging and in premature aging syndromes.
Mech. Ageing Dev. 21:157-167(1983)

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

PubMed=24749076; DOI=10.1016/j.stemcr.2014.02.006
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)