GM00367
Fibroblast from Lung, Lung
Description:
ATAXIA-TELANGIECTASIA; AT
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
|
Biopsy Source
|
Lung
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Lung
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Lung, Lung
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.69 |
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| URACIL DNA GLYCOSYLASE |
Seal et al (Proc Natl Acad Sci USA 85:2339-2343, 1988) reported that monoclonal antibody, 40.10.09 to normal uracil DNA glycosylase had normal immunoreactivity with the uracil DNA glycosylase from this cell culture. In contrast, the antibody did not recognize or inhibit the native enzyme from five different Bloom syndrome cultures. |
| |
| Remarks |
Fibroblast culture (lung biopsy); a deceased sister had AT; more resistant to neocarzinostatin inhibition of DNA synthesis than normal fibroblasts |
| Cuadrado M, Martinez-Pastor B, Murga M, Toledo LI, Gutierrez-Martinez P, Lopez E, Fernandez-Capetillo O, ATM regulates ATR chromatin loading in response to DNA double-strand breaks The Journal of experimental medicine203:297-303 2006 |
| PubMed ID: 16461339 |
| |
| Eller MS, Li GZ, Firoozabadi R, Puri N, Gilchrest BA, Induction of a p95/Nbs1-mediated S phase checkpoint by telomere 3' overhang
specific DNA. FASEB J17(2):152-62 2003 |
| PubMed ID: 12554694 |
| |
| Piret B, Schoonbroodt S, Piette J, The ATM protein is required for sustained activation of NF-kappaB following DNA damage. Oncogene18(13):2261-71 1999 |
| PubMed ID: 10327072 |
| |
| Seal G, Brech K, Karp SJ, Cool BL, Sirover MA, Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. Proc Natl Acad Sci U S A85:2339-43 1988 |
| PubMed ID: 3353381 |
| |
| McKinnon PJ, Burgoyne LA, Altered cellular morphology and microfilament array in ataxia- telangiectasia fibroblasts. Eur J Cell Biol39:161-6 1985 |
| PubMed ID: 3910438 |
| |
| Povirk LF, Goldberg IH, Inhibition of mammalian deoxyribonucleic acid synthesis by neocarzinostatin: selective effect on replicon initiation in CHO cells and resistant synthesis in ataxia telangiectasia fibroblasts. Biochemistry21:5857-62 1982 |
| PubMed ID: 6217834 |
| |
| Huang, Genetic and biochemical studies with ataxia telangiectasia: A review. Hum Genet59:1-9 1981 |
| PubMed ID: 10819014 |
| |
| Grove GL, Houghton BA, Cochran JW, Kress ED, Cristofalo VJ, Hydrocortisone effects on cell proliferation: specificity of response among various cell types. Cell Biol Int Rep1:147-55 1977 |
| PubMed ID: 608177 |
| |
| Remsen JF, Cerutti PA, Excision of gamma-ray induced thymine lesions by preparations from ataxia telangiectasia fibroblasts. Mutat Res43:139-45 1977 |
| PubMed ID: 865488 |
| dbSNP |
dbSNP ID: 19657 |
| 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 |
| Cumulative PDL at Freeze |
6.69 |
| 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 |
| Supplement |
- |
|
|