AG03058
Fibroblast from Skin, Skin
Description:
ATAXIA-TELANGIECTASIA; AT
LEUKEMIA, ACUTE MYELOID; AML
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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 |
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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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Fibroblast from Skin, Skin
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Race
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Black/African American
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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 Senescence |
20 |
| PDL at Freeze |
12 |
| Passage Frozen |
8 |
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| Remarks |
The donor is clinically affected with ataxia-telangiectasia and also with acute leukemia. Clinical manifestations are gross truncal and limb ataxia, cafe au lait spots, ocular telangiectasia and generalized lymphadenopathy. A deceased sister had AT. The skin biopsy was taken ante-mortem on 6/9/78. The culture was initiated using explants of minced tissue. Culture shows an increased sensitivity to cell killing by X-irradiation. The cell morphology is fibroblast-like. |
| 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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| Davis T, Kipling D, Assessing the role of stress signalling via p38 MAP kinase in the premature senescence of Ataxia Telangiectasia and Werner syndrome fibroblasts Biogerontology10:253-66 2008 |
| PubMed ID: 18830681 |
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| Innes CL, Heinloth AN, Flores KG, Sieber SO, Deming PB, Bushel PR, Kaufmann WK, Paules RS, ATM requirement in gene expression responses to ionizing radiation in human lymphoblasts and fibroblasts. Mol Cancer Res4(3):197-207 2006 |
| PubMed ID: 16547157 |
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| Tchirkov A, Lansdorp PM, Role of oxidative stress in telomere shortening in cultured fibroblasts from normal individuals and patients with ataxia-telangiectasia. Human Molecular Genetics12:227-232 2003 |
| PubMed ID: 12554677 |
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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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| Hande MP, Balajee AS, Tchirkov A, Wynshaw-Boris A, Lansdorp PM, Extra-chromosomal telomeric DNA in cells from Atm(-/-) mice and patients with ataxia-telangiectasia. Hum Mol Genet10(5):519-28 2001 |
| PubMed ID: 11181576 |
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| Ashburner BP, Shackelford RE, Baldwin AS Jr, Paules RS, Lack of involvement of ataxia telangiectasia mutated (ATM) in regulation of nuclear factor-kappaB (NF-kappaB) in human diploid fibroblasts. Cancer Res59(21):5456-60 1999 |
| PubMed ID: 10554017 |
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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):5456-60 1995 |
| PubMed ID: 10554017 |
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| Paules RS, Levedakou EN, Wilson SJ, Innes CL, Rhodes N, Tlsty TD, Galloway DA, Donehower LA, Tainsky MA, Kaufmann WK, Defective G2 checkpoint function in cells from individuals with familial cancer syndromes. Cancer Res55:1763-73 1995 |
| PubMed ID: 7712486 |
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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: 19686 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
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601626 LEUKEMIA, ACUTE MYELOID; AML |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
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601626 LEUKEMIA, ACUTE MYELOID; AML |
| 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 |
| PDL at Senescence |
20 |
| Cumulative PDL at Freeze |
12 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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