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
Hereditary Cancers
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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Family Member
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1
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Relation to Proband
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father
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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 |
6 |
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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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| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 1 |
S381fsX; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
1141ins4 |
| Remarks |
ATH15Be; clinically unaffected; normal sensitivity to cell killing by X-irradiation; a 4bp insertion at nucleotide 1141 (1141ins4) in exon 11 results in a frameshift and truncation at codon 381 (S381X); father of 2 affected children (1 child is GM03189-LCL/GM03487-Fibro and other child is not in the repository); spouse of GM03188(LCL)/GM03489(Fibro); see GM03187 for donor LCL. |
| Rhodes N, D'Souza T, Foster CD, Ziv Y, Kirsch DG, Shiloh Y, Kastan MB, Reinhart PH, Gilmer TM, Defective potassium currents in ataxia telangiectasia fibroblasts. Genes Dev12:3686-92 1998 |
| PubMed ID: 9851975 |
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| Nagasawa H, Little JB, Tsang NM, Saunders E, Tesmer J, Strniste GF, Effect of dose rate on the survival of irradiated human skin fibroblasts. Radiat Res132:375-9 1992 |
| PubMed ID: 1475361 |
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| Meredith MJ, Dodson ML, Imparied glutathione biosynthesis in cultured human ataxia- telangiectasia cells. Cancer Res47:4576-81 1987 |
| PubMed ID: 3621155 |
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| 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 |
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| Zwelling LA, Kerrigan D, Mattern MR, Ataxia-telangiectasia cells are not uniformly deficient in poly(ADP- ribose) synthesis following X-irradiation. Mutat Res120:69-78 1983 |
| PubMed ID: 6835265 |
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| 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 |
| dbSNP |
dbSNP ID: 21058 |
| 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 |
6 |
| 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 |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
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