NG03057
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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Race
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Black/African American
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Family Member
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2
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Relation to Proband
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mother
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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 |
| Passage Frozen |
4 |
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| Remarks |
Donor is a clinically unaffected mother of two affected daughters. The skin biopsy was taken ante-mortem on 6/9/78. The culture was initiated using explants of minced tissue. Culture shows a normal sensitivity to cell killing by X-irradiation. The cell morphology is fibroblast-like. |
| Mamon HJ, Dahlberg W, Azzam EI, Nagasawa H, Muto MG, Little JB, Differing effects of breast cancer 1, early onset (BRCA1) and ataxia-telangiectasia mutated (ATM) mutations on cellular responses to ionizing radiation. Int J Radiat Biol79(10):817-29 2003 |
| PubMed ID: 14630541 |
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| Wang X, Zalcenstein A, Oren M, Nitric oxide promotes p53 nuclear retention and sensitizes neuroblastoma cells to apoptosis by ionizing radiation Cell death and differentiation10:468-76 2003 |
| PubMed ID: 12719724 |
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| Wang X, Michael D, de Murcia G, Oren M, p53 Activation by nitric oxide involves down-regulation of Mdm2. J Biol Chem277(18):15697-702 2002 |
| PubMed ID: 11867628 |
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| Dahlberg, Response of dermal fibroblast cultures from patients eith unusually severe responses to radiotherapy and from ataxia telangiectasia heterozygotes to fractionated radiation. Clin Cancer Res1:785 (1995):15697-702 1995 |
| PubMed ID: 11867628 |
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| Nagasawa H, Latt SA, Lalande ME, Little JB, Effects of X-irradiation on cell-cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts. Mutat Res148:71-82 1985 |
| PubMed ID: 3969079 |
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| Kinsella TJ, Mitchell JB, McPherson S, Russo A, Tietze F, In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. Cancer Res42:3950-6 1982 |
| PubMed ID: 7104995 |
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| Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484:3950-6 1979 |
| PubMed ID: 7104995 |
| dbSNP |
dbSNP ID: 19376 |
| 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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