NG04405
DNA from Fibroblast
Description:
ATAXIA-TELANGIECTASIA; AT
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
9 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Donor is clinically affected and there is no family history of ataxia telangiectasia. The biopsy was taken ante-mortem from skin of the left forearm on 10/23/80. The culture was initiated using explants of minced skin tissue. Cell morphology is fibroblast-like. The karyotype is 46,XY with random chromosomal abnormalities in 50% of cells examined. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Song X, Ma F, Herrup K, Accumulation of Cytoplasmic DNA Due to ATM Deficiency Activates the Microglial Viral Response System with Neurotoxic Consequences The Journal of neuroscience : the official journal of the Society for Neuroscience39:6378-6394 2019 |
| PubMed ID: 31189575 |
| |
| 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 cell39:e12901 2018 |
| PubMed ID: 30706626 |
| |
| Sharma NK, Lebedeva M, Thomas T, Kovalenko OA, Stumpf JD, Shadel GS, Santos JH, Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia DNA Repair (AMST)13:22-31 2014 |
| PubMed ID: 24342190 |
| |
| 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 |
| |
| Venkatachalam P, de Toledo SM, Pandey BN, Tephly LA, Carter AB, Little JB, Spitz DR, Azzam EI, Regulation of normal cell cycle progression by flavin-containing oxidases Oncogene27:20-31 2007 |
| PubMed ID: 17637756 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| Chaturvedi P, Eng WK, Zhu Y, Mattern MR, Mishra R, Hurle MR, Zhang X, Annan RS, Lu Q, Faucette LF, Scott GF, Li X, Carr SA, Johnson RK, Winkler JD, Zhou BB, Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway. Oncogene18(28):4047-54 1999 |
| PubMed ID: 10435585 |
| dbSNP |
dbSNP ID: 14789 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
| 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 |
|
|