NG02496
DNA from Fibroblast
Description:
ATAXIA-TELANGIECTASIA; AT
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Untransformed
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Sample Source
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DNA from Fibroblast
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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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ISCN
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46,XY with random abnormalities in 74% of cells
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Donor was diagnosed in USSR. The cell morphology is fibroblast-like. The karyotype is 46,XY with random chromosomal abnormalities in most of the cells examined. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Lan YY, Heather JM, Eisenhaure T, Garris CS, Lieb D, Raychowdhury R, Hacohen N, Extranuclear DNA accumulates in aged cells and contributes to senescence and inflammation Aging cell:e12901 2018 |
| PubMed ID: 30706626 |
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| Karlseder J, Hoke K, Mirzoeva OK, Bakkenist C, Kastan MB, Petrini JH, de Lange T, The telomeric protein TRF2 binds the ATM kinase and can inhibit the ATM-dependent DNA damage response. PLoS Biol2(8):E240 2004 |
| PubMed ID: 15314656 |
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| Silverman J, Takai H, Buonomo SB, Eisenhaber F, de Lange T, Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint. Genes Dev18(17):2108-19 2004 |
| PubMed ID: 15342490 |
| dbSNP |
dbSNP ID: 17247 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
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AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
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AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
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AT1 |
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ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
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