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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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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| Passage Frozen |
13 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| REVERSE TRANSCRIPTASE |
Srivastava et al (Mech Ageing Dev 51:133-138, 1990) reported that they were unable to detect reverse transcriptase-like activity in this cell culture. |
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| Remarks |
Neurologic disability and dramatic telangiectasia; elevated serum alpha-fetoprotein; slow growing culture |
| 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 |
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| Duba HC, Weirich HG, Weirich-Schwaiger H, Utermann B, Nachbaur D, Solder E, Utermann G, Chromosomal instability in a woman with infertility and two unaffected brothers: a new familial chromosomal breakage syndrome? Hum Genet100:431-40 1997 |
| PubMed ID: 9272168 |
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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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| Srivastava A, Shmookler Reis RJ, Goldstein S, Absence of reverse transcriptase activity in human diploid fibroblasts. Mech Ageing Dev51:133-8 1990 |
| PubMed ID: 1689785 |
| dbSNP |
dbSNP ID: 20419 |
| 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 |
13 |
| Split Ratio |
1:2 |
| 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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