Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
Repository
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No Data
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Subcollection |
Heritable Diseases |
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 |
9 |
Passage Frozen |
8 |
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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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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 |
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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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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 |
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