ID   AG03141
AC   CVCL_X767
SY   AG 3141; AG3141; AG03141A; AG03141B
DR   CLO; CLO_0036986
DR   Coriell; AG03141
DR   GEO; GSM1184266
DR   GEO; GSM1184267
DR   GEO; GSM1535462
DR   GEO; GSM1535470
DR   Wikidata; Q54609725
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00597;
RX   PubMed=7253718;
RX   PubMed=10615119;
RX   PubMed=10655550;
RX   PubMed=16339323;
RX   PubMed=24749076;
RX   PubMed=26984941;
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:12791; WRN; Simple; p.Gln748Ter (c.2242C>T) (2476C>T); ClinVar=VCV000835212; Zygosity=Homozygous (Coriell=AG03141).
CC   Omics: Transcriptomics; Microarray.
CC   Omics: Transcriptomics; miRNA profiling; Microarray.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_902; Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y11M
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 10-04-25; Version: 17
//
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980).
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//
RX   PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0;
RA   Das N.K., Murphy D.G.;
RT   "The National Institute on Aging repository cell cultures.";
RL   Mech. Ageing Dev. 16:1-17(1981).
//
RX   PubMed=10615119; DOI=10.1038/71630;
RA   Wyllie F.S., Jones C.J., Skinner J.W., Haughton M.F., Wallis C.,
RA   Wynford-Thomas D., Faragher R.G.A., Kipling D.;
RT   "Telomerase prevents the accelerated cell ageing of Werner syndrome
RT   fibroblasts.";
RL   Nat. Genet. 24:16-17(2000).
//
RX   PubMed=10655550; DOI=10.1093/hmg/9.3.403;
RA   Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.;
RT   "The establishment of telomerase-immortalized cell lines representing
RT   human chromosome instability syndromes.";
RL   Hum. Mol. Genet. 9:403-411(2000).
//
RX   PubMed=16339323; DOI=10.1093/gerona/60.11.1386;
RA   Davis T., Baird D.M., Haughton M.F., Jones C.J., Kipling D.;
RT   "Prevention of accelerated cell aging in Werner syndrome using a p38
RT   mitogen-activated protein kinase inhibitor.";
RL   J. Gerontol., A, Biol. Sci. Med. Sci. 60:1386-1393(2005).
//
RX   PubMed=24749076; DOI=10.1016/j.stemcr.2014.02.006; PMCID=PMC3986587;
RA   Cheung H.-H., Liu X.-Z., Canterel-Thouennon L., Li L., Edmonson C.,
RA   Rennert O.M.;
RT   "Telomerase protects Werner syndrome lineage-specific stem cells from
RT   premature aging.";
RL   Stem Cell Reports 2:534-546(2014).
//
RX   PubMed=26984941; DOI=10.1093/hmg/ddw079; PMCID=PMC5062591;
RA   Tang W.-L., Robles A.I., Beyer R.P., Graybuck L.T., Nguyen G.H.,
RA   Oshima J., Maizels N., Harris C.C., Monnat R.J. Jr.;
RT   "The Werner syndrome RECQ helicase targets G4 DNA in human cells to
RT   modulate transcription.";
RL   Hum. Mol. Genet. 25:2060-2069(2016).
//