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GM11261 LCL from B-Lymphocyte

Description:

ATAXIA-TELANGIECTASIA; AT

Affected:

Yes

Sex:

Female

Age:

16 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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 Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Black/African American
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)

Characterizations

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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
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 

Phenotypic Data

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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)

Publications

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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
 
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
 
Concannon P, Gatti RA, Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat10(2):100-7 1997
PubMed ID: 9259193
 
Lavin MF, Shiloh Y, The genetic defect in ataxia-telangiectasia. Annu Rev Immunol15:177-202 1997
PubMed ID: 9143686
 
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
 
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
 
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
 
Young BR, Painter RB, Radioresistant DNA synthesis and human genetic diseases. Hum Genet82:113-7 1989
PubMed ID: 2722185
 
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
 
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

External Links

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dbSNP dbSNP ID: 11507
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

Culture Protocols

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Split Ratio 1:4
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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