Description:
ATAXIA-TELANGIECTASIA; AT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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IRANIAN
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Family Member
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2
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Relation to Proband
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brother
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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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| Passage Frozen |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
AT21IJE-F; decreased post-neocarzinostatin exposure colony-forming ability; see GM02783 for donor LCL; similarly affected sibling (GM02782-LCL/GM02531-Fibro); unaffected mother is GM02781 (LCL). |
| Sunderland P, Augustyniak J, Lenart J, Buzanska L, Carlessi L, Delia D, Sikora E, ATM-deficient neural precursors develop senescence phenotype with disturbances in autophagy Mechanisms of ageing and development:111296 2019 |
| PubMed ID: 32621937 |
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| Demonacos C, Krstic-Demonacos M, Smith L, Xu D, O'Connor DP, Jansson M, La Thangue NB, A new effector pathway links ATM kinase with the DNA damage response. Nat Cell Biol6(10):968-76 2004 |
| PubMed ID: 15448695 |
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| Adamson AW, Kim WJ, Shangary S, Baskaran R, Brown KD, ATM is activated in response to N-methyl-N'-nitro-N-nitrosoguanidine-induced DNA
alkylation. J Biol Chem277(41):38222-9 2002 |
| PubMed ID: 12151394 |
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| Vaziri H, West MD, Allsopp RC, Davison TS, Wu YS, Arrowsmith CH, Poirier GG, Benchimol S, ATM-dependent telomere loss in aging human diploid fibroblasts and DNA damage lead to the post-translational activation of p53 protein involving poly(ADP-ribose) polymerase. EMBO J16:6018-33 1997 |
| PubMed ID: 9312059 |
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| Bender MA, Viola MV, Fiore J, Thompson MH, Leonard RC, Normal G2 chromosomal radiosensitivity and cell survival in the cancer family syndrome [see comments] Cancer Res48:2579-84 1988 |
| PubMed ID: 3356018 |
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| Berliner N, Duby AD, Morton CC, Leder P, Seidman JG, Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus. A potential diagnostic tool. J Clin Invest76:1283-5 1985 |
| PubMed ID: 2995449 |
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| Shiloh Y, Tabor E, Becker Y, Cellular hypersensitivity to neocarzinostatin in ataxia-telangiectasia skin fibroblasts. Cancer Res42:2247-9 1982 |
| PubMed ID: 6210429 |
| dbSNP |
dbSNP ID: 15926 |
| 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 |
| Passage Frozen |
10 |
| 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 |
| Supplement |
- |
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