• Mutation; HGNC; 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 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
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

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)