Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS
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Repository
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No Data
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| Subcollection |
Heritable Diseases |
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License Required
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No Data
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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| PDL at Freeze |
5.16 |
| Passage Frozen |
3 |
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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 and by Chromosome Analysis |
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| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 1 |
F1074L; WERNER SYNDROME |
| Identified Mutation |
PHE1074LEU |
| Della Valle F, Reddy P, Yamamoto M, Liu P, Saera-Vila A, Bensaddek D, Zhang H, Prieto Martinez J, Abassi L, Celii M, Ocampo A, Nuñez Delicado E, Mangiavacchi A, Aiese Cigliano R, Rodriguez Esteban C, Horvath S, Izpisua Belmonte JC, Orlando V, LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes Science translational medicine14:eabl6057 2022 |
| PubMed ID: 35947677 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Marciniak RA, Lombard DB, Johnson FB, Guarente L, Nucleolar localization of the Werner syndrome protein in human cells. Proc Natl Acad Sci U S A95(12):6887-92 1998 |
| PubMed ID: 9618508 |
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| Dimri GP, Lee X, Basile G, Acosta M, Scott G, Roskelley C, Medrano EE, Linskens M, Rubelj I, Pereira-Smith O, et al, A biomarker that identifies senescent human cells in culture and in aging skin in vivo. Proc Natl Acad Sci U S A92:9363-7 1995 |
| PubMed ID: 7568133 |
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| Cowles EA, Brauker JH, Anderson RL, Turnover of sulfated glycosaminoglycans in fibroblasts derived from patients with Werner's syndrome. Exp Cell Res168:347-57 1987 |
| PubMed ID: 3100317 |
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| Harley CB, Pollard JW, Chamberlain JW, Stanners CP, Goldstein S, Protein synthetic errors do not increase during aging of cultured human fibroblasts. Proc Natl Acad Sci U S A77:1885-9 1980 |
| PubMed ID: 6246512 |
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