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

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
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
Nirmal K. Das, Donald G. Murphy;
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
Trygve O. Tollefsbol, M. Rebecca Zaun, Robert W. Gracy;
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
M. Lynne Chapman, M. Rebecca Zaun, Robert W. Gracy;
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
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)