GM13327
LCL from B-Lymphocyte
Description:
ATAXIA-TELANGIECTASIA; AT
Repository
|
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 |
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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LCL from B-Lymphocyte
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Race
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Black/African American
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Family Member
|
2
|
Relation to Proband
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sister
|
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 |
|
Remarks |
AT4LA; onset of ataxia at age 4; diagnosed at age 10; telangiectasias of eyes only; sinopulmonary infections; 2 affected sibs; elevated serum AFP; culture shows increased radiosensitivity; complementation group C; previous mutations listed for GM11261 and GM13327 have not been confirmed (personal communication) |
Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A, Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet5(4):433-9 1996 |
PubMed ID: 8845835 |
|
Young BR, Painter RB, Radioresistant DNA synthesis and human genetic diseases. Hum Genet82:113-7 1989 |
PubMed ID: 2722185 |
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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: 22669 |
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 |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
|
AT1 |
|
ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
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