NG03141
DNA from Fibroblast
Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
RECQ PROTEIN-LIKE 2; RECQL2
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
SPANISH
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.58 |
| Passage Frozen |
12 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 1 |
GLN748TER; WERNER SYNDROME |
| Identified Mutation |
2476C>T |
| |
| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 2 |
GLN748TER; WERNER SYNDROME |
| Identified Mutation |
2476C>T |
| Remarks |
The donor had features of premature aging, pigmented and atrophic skin, cataracts and hyperlipidemia type V. The biopsy was taken ante-mortem on 9/20/78. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 46,XX with 80% of cells examined showing random chromosomal abnormalities. Homozygous for a C to T transition at nucleotide 2476 in the WRN gene (2476C>T), resulting in a stop codon at 748 {Gln748TER (Q748X)}. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Hartmann C, Herling L, Hartmann A, Köckritz V, Fuellen G, Walter M, Hermann A, Systematic estimation of biological age of Frontiers in aging4:1129107 2022 |
| PubMed ID: 36873743 |
| |
| Fang EF, Hou Y, Lautrup S, Jensen MB, Yang B, SenGupta T, Caponio D, Khezri R, Demarest TG, Aman Y, Figueroa D, Morevati M, Lee HJ, Kato H, Kassahun H, Lee JH, Filippelli D, Okur MN, Mangerich A, Croteau DL, Maezawa Y, Lyssiotis CA, Tao J, Yokote K, Rusten TE, Mattson MP, Jasper H, Nilsen H, Bohr VA, NAD Nature communications10:5284 2018 |
| PubMed ID: 31754102 |
| |
| Wang S, Liu Z, Ye Y, Li B, Liu T, Zhang W, Liu GH, Zhang YA, Qu J, Xu D, Chen Z, Ectopic hTERT expression facilitates reprograming of fibroblasts derived from patients with Werner syndrome as a WS cellular model Cell death & disease9:923 2017 |
| PubMed ID: 30206203 |
| |
| Indig FE, Rybanska I, Karmakar P, Devulapalli C, Fu H, Carrier F, Bohr VA, Nucleolin inhibits g4 oligonucleotide unwinding by werner helicase PloS one7:e35229 2010 |
| PubMed ID: 22675465 |
| |
| Bagley MC, Davis T, Dix MC, Murziani PG, Rokicki MJ, Kipling D, Microwave-assisted synthesis of 5-aminopyrazol-4-yl ketones and the p38(MAPK) inhibitor RO3201195 for study in Werner syndrome cells Bioorganic & medicinal chemistry letters18:3745-8 2008 |
| PubMed ID: 18539026 |
| |
| Davis T, Kipling D, Assessing the role of stress signalling via p38 MAP kinase in the premature senescence of Ataxia Telangiectasia and Werner syndrome fibroblasts Biogerontology10:253-66 2008 |
| PubMed ID: 18830681 |
| |
| Li B, Jog SP, Reddy S, Comai L, WRN controls formation of extrachromosomal telomeric circles and is required for TRF2DeltaB-mediated telomere shortening Molecular and cellular biology28:1892-904 2008 |
| PubMed ID: 18212065 |
| |
| Bagley MC, Davis T, Dix MC, Rokicki MJ, Kipling D, Rapid synthesis of VX-745: p38 MAP kinase inhibition in Werner syndrome cells Bioorganic & medicinal chemistry letters17:5107-10 2007 |
| PubMed ID: 17659871 |
| |
| Bagley MC, Davis T, Dix MC, Widdowson CS, Kipling D, Microwave-assisted synthesis of N-pyrazole ureas and the p38alpha inhibitor BIRB 796 for study into accelerated cell ageing Organic & biomolecular chemistry4:4158-64 2007 |
| PubMed ID: 17312972 |
| |
| Crabbe L, Jauch A, Naeger CM, Holtgreve-Grez H, Karlseder J, Telomere dysfunction as a cause of genomic instability in Werner syndrome Proceedings of the National Academy of Sciences of the United States of America104:2205-10 2007 |
| PubMed ID: 17284601 |
| |
| Davis T, Bagley MC, Dix MC, Murziani PG, Rokicki MJ, Widdowson CS, Zayed JM, Bachler MA, Kipling D, Synthesis and in vivo activity of MK2 and MK2 substrate-selective p38alpha(MAPK) inhibitors in Werner syndrome cells Bioorg Med Chem Lett17:6832-6835 2007 |
| PubMed ID: 17964780 |
| |
| Davis T, Haughton MF, Jones CJ, Kipling D, Prevention of accelerated cell aging in the Werner syndrome Annals of the New York Academy of Sciences1067:243-7 2006 |
| PubMed ID: 16803993 |
| |
| Caburet S, Conti C, Schurra C, Lebofsky R, Edelstein SJ, Bensimon A, Human ribosomal RNA gene arrays display a broad range of palindromic structures Genome research15:1079-85 2005 |
| PubMed ID: 16024823 |
| |
| Davis T, Baird DM, Haughton MF, Jones CJ, Kipling D, Prevention of Accelerated Cell Aging in Werner Syndrome Using a p38 Mitogen-Activated Protein Kinase Inhibitor. J Gerontol A Biol Sci Med Sci60(11):1386-93 2005 |
| PubMed ID: 16339323 |
| |
| Baird DM, Davis T, Rowson J, Jones CJ, Kipling D, Normal telomere erosion rates at the single cell level in Werner syndrome fibroblast cells. Hum Mol Genet13(14):1515-24 2004 |
| PubMed ID: 15150162 |
| |
| Von Kobbe C, May A, Grandori C, Bohr VA, Werner syndrome cells escape hydrogen peroxide-induced cell proliferation arrest. FASEB J18(15):1970-2 2004 |
| PubMed ID: 15459124 |
| |
| Grandori C, Wu KJ, Fernandez P, Ngouenet C, Grim J, Clurman BE, Moser MJ, Oshima J, Russell DW, Swisshelm K, Frank S, Amati B, Dalla-Favera R, Monnat RJ Jr., Werner syndrome protein limits MYC-induced cellular senescence. Genes Dev17(13):1569-74 2003 |
| PubMed ID: 12842909 |
| |
| von Kobbe C, Harrigan JA, May A, Opresko PL, Dawut L, Cheng WH, Bohr VA, Central role for the Werner syndrome protein/poly(ADP-ribose) polymerase 1 complex in the poly(ADP-ribosyl)ation pathway after DNA damage. Mol Cell Biol23(23):8601-13 2003 |
| PubMed ID: 14612404 |
| |
| Choi D, Whittier PS, Oshima J, Funk WD, Telomerase expression prevents replicative senescence but does not fully reset mRNA expression patterns in Werner syndrome cell strains. FASEB J15(6):1014-20 2001 |
| PubMed ID: 11292662 |
| |
| Blander G, Zalle N, Leal JF, Bar-Or RL, Yu CE, Oren M, The Werner syndrome protein contributes to induction of p53 by DNA damage. FASEB J14(14):2138-40 2000 |
| PubMed ID: 11023999 |
| |
| Machwe A, Orren DK, Bohr VA, Accelerated methylation of ribosomal RNA genes during the cellular senescence of
Werner syndrome fibroblasts. FASEB J14(12):1715-24 2000 |
| PubMed ID: 10973920 |
| |
| Ouellette MM, McDaniel LD, Wright WE, Shay JW, Schultz RA, The establishment of telomerase-immortalized cell lines representing human
chromosome instability syndromes. Hum Mol Genet9(3):403-11 2000 |
| PubMed ID: 10655550 |
| |
| Wyllie FS, Jones CJ, Skinner JW, Haughton MF, Wallis C, Wynford-Thomas D, Faragher RG, Kipling D, Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts. Nat Genet24(1):16-7 2000 |
| PubMed ID: 10615119 |
| |
| Spillare EA, Robles AI, Wang XW, Shen JC, Yu CE, Schellenberg GD, Harris CC, p53-mediated apoptosis is attenuated in Werner syndrome cells. Genes Dev13:1355-60 1999 |
| PubMed ID: 10364153 |
| |
| Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, Balci S, Miki T, Nakura J,
Ogihara T, Ells J, Smith M, Melaragno MI, Fraccaro M, Scappaticci S, Matthews J,
Ouais S, Jarzebowicz A, Schellenberg GD, Martin GM, Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet5(12):1909-13 1996 |
| PubMed ID: 8968742 |
| |
| Sipley JD, Menninger JC, Hartley KO, Ward DC, Jackson SP, Anderson CW, Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8. Proc Natl Acad Sci U S A92:7515-9 1995 |
| PubMed ID: 7638222 |
| |
| Faragher RG, Kill IR, Hunter JA, Pope FM, Tannock C, Shall S, The gene responsible for Werner syndrome may be a cell division "counting" gene. Proc Natl Acad Sci U S A90:12030-4 1993 |
| PubMed ID: 8265666 |
|
|