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AG03058 Fibroblast from Skin, Skin

Description:

ATAXIA-TELANGIECTASIA; AT
LEUKEMIA, ACUTE MYELOID; AML

Affected:

Yes

Sex:

Female

Age:

14 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Class Repair Defective and Chromosomal Instability Syndromes
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
Race Black/African American
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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.

Characterizations

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PDL at Senescence 20
PDL at Freeze 12
Passage Frozen 8
 

Phenotypic Data

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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.

Publications

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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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 19686
NCBI GTR 208900 ATAXIA-TELANGIECTASIA; AT
601626 LEUKEMIA, ACUTE MYELOID; AML
OMIM 208900 ATAXIA-TELANGIECTASIA; AT
601626 LEUKEMIA, ACUTE MYELOID; AML
Omim Description AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
  AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED
  AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED
  AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED
  AT1
  ATAXIA-TELANGIECTASIA; AT
  LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED

Culture Protocols

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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 -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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