AG11395
Fibroblast from Skin, Skin
Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
RECQ PROTEIN-LIKE 2; RECQL2
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Simian Virus 40
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Sample Source
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Fibroblast from Skin, Skin
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6.12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 1 |
604611.0006; WERNER SYNDROME |
| Identified Mutation |
ARG368TER; In 1 Caucasian and 3 Japanese patients with Werner syndrome (277700), Oshima et al. [Hum. Molec. Genet. 5: 1909-1913 (1996)] first reported this mutation (1336C-T), located in exon 9 of the WRN gene, that was predicted to produce a truncated protein lacking WRN helicase function. |
| |
| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 2 |
604611.0006; WERNER SYNDROME |
| Identified Mutation |
ARG368TER; In 1 Caucasian and 3 Japanese patients with Werner syndrome (277700), Oshima et al. [Hum. Molec. Genet. 5: 1909-1913 (1996)] first reported this mutation (1336C-T), located in exon 9 of the WRN gene, that was predicted to produce a truncated protein lacking WRN helicase function. |
| Remarks |
Line WS780. The culture was initiated by infection of a skin fibroblast culture from a Werner syndrome patient, AG00780, at PDL 6 with plasmid DNA containing the SV40 early region. The culture entered crisis at an estimated PDL of 16. The post-crisis culture was frozen at passage 89 and the PDL of the freeze is unknown. The cell morphology is epithelial-like. The donor subject is homozygous for a C>T transition at nucleotide 1336 in exon 9 of the RECQL2 gene (1336C>T) resulting in an amino acid change at codon 368 from arginine to a stop codon [Arg368Ter (R368X)]. |
| Popuri V, Huang J, Ramamoorthy M, Tadokoro T, Croteau DL, Bohr VA, RECQL5 plays co-operative and complementary roles with WRN syndrome helicase Nucleic Acids Res41(2):881-99 2013 |
| PubMed ID: 23180761 |
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| 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 Society41(2):881-99 2013 |
| PubMed ID: 23702336 |
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| Bérubé J, Garand C, Lettre G, Lebel M, The non-synonymous polymorphism at position 114 of the WRN protein affects cholesterol efflux in vitro and correlates with cholesterol levels in vivo Experimental gerontology41(2):881-99 2012 |
| PubMed ID: 23523974 |
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| Popuri V, Ramamoorthy M, Tadokoro T, Singh DK, Karmakar P, Croteau DL, Bohr VA, Recruitment and retention dynamics of RECQL5 at DNA double strand break sites DNA repair11:624-35 2012 |
| PubMed ID: 22633600 |
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| 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 |
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| Zecevic A, Menard H, Gurel V, Hagan E, DeCaro R, Zhitkovich A, WRN helicase promotes repair of DNA double-strand breaks caused by aberrant mismatch repair of chromium-DNA adducts Cell cycle (Georgetown, Tex)8:2769-78 2009 |
| PubMed ID: 19652551 |
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| Pirzio LM, Pichierri P, Bignami M, Franchitto A, Werner syndrome helicase activity is essential in maintaining fragile site stability The Journal of cell biology180:305-14 2008 |
| PubMed ID: 18209099 |
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| Perry JJ, Yannone SM, Holden LG, Hitomi C, Asaithamby A, Han S, Cooper PK, Chen DJ, Tainer JA, WRN exonuclease structure and molecular mechanism imply an editing role in DNA end processing Nature structural & molecular biology13:414-22 2006 |
| PubMed ID: 16622405 |
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| 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 |
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| Fasching CL, Bower K, Reddel RR, Telomerase-independent telomere length maintenance in the absence of alternative lengthening of telomeres-associated promyelocytic leukemia bodies Cancer Res65(7):2722-9 2005 |
| PubMed ID: 15805271 |
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| Marciniak RA, Cavazos D, Montellano R, Chen Q, Guarente L, Johnson FB, A novel telomere structure in a human alternative lengthening of telomeres cell line. Cancer Res65(7):2730-7 2005 |
| PubMed ID: 15805272 |
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| Cheng WH, von Kobbe C, Opresko PL, Fields KM, Ren J, Kufe D, Bohr VA, Werner syndrome protein phosphorylation by abl tyrosine kinase regulates its activity and distribution. Mol Cell Biol23(18):6385-95 2003 |
| PubMed ID: 12944467 |
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| Gao H, Chen XB, McGowan CH, Mus81 endonuclease localizes to nucleoli and to regions of DNA damage in human S-phase cells. Mol Biol Cell14(12):4826-34 2003 |
| PubMed ID: 14638871 |
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| 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 |
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| von Kobbe C, Bohr VA, A nucleolar targeting sequence in the Werner syndrome protein resides within
residues 949-1092. J Cell Sci115(Pt 20):3901-7 2002 |
| PubMed ID: 12244128 |
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| Hisama FM, Chen YH, Meyn MS, Oshima J, Weissman SM, WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts. Cancer Res60(9):2372-6 2000 |
| PubMed ID: 10811112 |
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| Bennett SE, Umar A, Oshima J, Monnat RJ Jr, Kunkel TA, Mismatch repair in extracts of Werner syndrome cell lines. Cancer Res57(14):2956-60 1997 |
| PubMed ID: 9230208 |
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| 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 |
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| Saito H, Moses RE, Immortalization of Werner syndrome and progeria fibroblasts Experimental cell research192:373-9 1991 |
| PubMed ID: 1671011 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
10% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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