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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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Family Member
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1
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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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| 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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Remarks |
AT3LA; onset of ataxia at age 3; drooling; ocular apraxia; extrapyramidal signs; telangiectasia-minimal cafe au lait spots; 2 affected sibs; elevated serum AFP; increased radiosensitivity; complementation group C; previous mutations listed for GM11261 and GM13327 have not been confirmed (personal communication) |
| Alt JR, Bouska A, Fernandez MR, Cerny RL, Xiao H, Eischen CM, Mdm2 binds to Nbs1 at sites of DNA damage and regulates double strand break repair. J Biol Chem280(19):18771-81 2005 |
| PubMed ID: 15734743 |
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| Hacia JG, Sun B, Hunt N, Edgemon K, Mosbrook D, Robbins C, Fodor SP, Tagle DA, Collins FS, Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res8(12):1245-58 1998 |
| PubMed ID: 9872980 |
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| Concannon P, Gatti RA, Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat10(2):100-7 1997 |
| PubMed ID: 9259193 |
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| Lavin MF, Shiloh Y, The genetic defect in ataxia-telangiectasia. Annu Rev Immunol15:177-202 1997 |
| PubMed ID: 9143686 |
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| Wei S, Charmley P, Concannon P, Organization, polymorphism, and expression of the human T-cell receptor AV1
subfamily. Immunogenetics45(6):405-12 1997 |
| PubMed ID: 9089098 |
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| Wright J, Teraoka S, Onengut S, Tolun A, Gatti RA, Ochs HD, Concannon P, A high frequency of distinct ATM gene mutations in ataxia- telangiectasia. Am J Hum Genet59:839-46 1996 |
| PubMed ID: 8808599 |
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| Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, et al, A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science268(5218):1749-53 1995 |
| PubMed ID: 7792600 |
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| Young BR, Painter RB, Radioresistant DNA synthesis and human genetic diseases. Hum Genet82:113-7 1989 |
| PubMed ID: 2722185 |
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| Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K, Localization of an ataxia-telangiectasia gene to chromosome 11q22-23 Nature336:577-80 1988 |
| PubMed ID: 3200306 |
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| Jaspers NG, Gatti RA, Baan C, Linssen PC, Bootsma D, Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet49:259-63 1988 |
| PubMed ID: 3248383 |
| dbSNP |
dbSNP ID: 11507 |
| 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 |
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