NG12795
DNA from Fibroblast
Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Thigh
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
Asian
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.53 |
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
The donor had features of short stature, bird-like appearance, gray hair, juvenile bilateral cataracts, atrophic skin and subcutaneous tissue, and hypogonadism. The biopsy was taken ante-mortem and stored frozen. The culture was initiated on 12/11/92 using explants of minced skin tissue. The cell morphology is fibroblast-like. Original fibroblast culture established from this patient was AG05231. |
| Talaei F, van Praag VM, Henning RH, Hydrogen sulfide restores a normal morphological phenotype in Werner syndrome fibroblasts, attenuates oxidative damage and modulates mTOR pathway Pharmacological research : the official journal of the Italian Pharmacological Society: 2013 |
| PubMed ID: 23702336 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| Kyng KJ, May A, Stevnsner T, Becker KG, Kølvrå S, Bohr VA, Gene expression responses to DNA damage are altered in human aging and in Werner Syndrome Oncogene24:5026-42 2005 |
| PubMed ID: 15897889 |
| |
| 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 |
| |
| Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004 |
| PubMed ID: 15060110 |
| |
| Franchitto A, Oshima J, Pichierri P, The G2-phase decatenation checkpoint is defective in Werner syndrome cells. Cancer Res63(12):3289-95 2003 |
| PubMed ID: 12810661 |
| |
| Kyng KJ, May A, Kolvraa S, Bohr VA, Gene expression profiling in Werner syndrome closely resembles that of normal aging. Proc Natl Acad Sci U S A100(21):12259-64 2003 |
| PubMed ID: 14527998 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| Goto M, Tanimoto K, Horiuchi Y, Sasazuki T, Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet19:8-15 1981 |
| PubMed ID: 7460386 |
|