Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class Repair Defective and Chromosomal Instability Syndromes
Class Syndromes with Increased Chromosome Breakage
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Ataxia; ocular telangiectasias; immune deficiency; submitter observed chromosome instability, including multiple rearrangements of chromosome #7 and/or #14 in 11% of PBL; PBL show increased chromo breakage after bleomycin; negative family history; see GM08391A Fibroblast; the paternal allele is a 4bp deletion at nucleotide 4642 (4642delGATA) resulting in a frameshift and a truncation at codon 1548 [Asp1548ter (D1548fsX)]; the maternal allele is a substitution (G>T) at nucleotide 5932 leading to the skipping of exon 42 and a truncation at codon 1978 (E1978X)
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 1 D1548fsX; ATAXIA-TELANGIECTASIA
Identified Mutation 4642del4
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 2 GLU1978TER; ATAXIA-TELANGIECTASIA
Identified Mutation 5932G>T
Remark Ataxia; ocular telangiectasias; immune deficiency; submitter observed chromosome instability, including multiple rearrangements of chromosome #7 and/or #14 in 11% of PBL; PBL show increased chromo breakage after bleomycin; negative family history; see GM08391A Fibroblast; the paternal allele is a 4bp deletion at nucleotide 4642 (4642delGATA) resulting in a frameshift and a truncation at codon 1548 [Asp1548ter (D1548fsX)]; the maternal allele is a substitution (G>T) at nucleotide 5932 leading to the skipping of exon 42 and a truncation at codon 1978 (E1978X)
Offer SM, Pan-Hammarström Q, Hammarström L, Harris RS, Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID PloS one5:e12260 2010
PubMed ID: 20805886
 
Gatz SA, Keimling M, Baumann C, Dörk T, Debatin KM, Fulda S, Wiesmüller L, Resveratrol modulates DNA double-strand break repair pathways in an ATM/ATR-p53- and -Nbs1-dependent manner Carcinogenesis29:519-27 2008
PubMed ID: 18174244
 
Smirnov DA, Cheung VG, ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs American journal of human genetics83:243-53 2008
PubMed ID: 18674748
 
Marcelain K, De La Torre C, González P, Pincheira J, Roles of nibrin and AtM/ATR kinases on the G2 checkpoint under endogenous or radio-induced DNA damage Biological research38:179-85 2005
PubMed ID: 16238096
 
Leonard JC, Mullinger AM, Schmidt J, Cordell HJ, Johnson RT, Genome instability in ataxia telangiectasia (A-T) families: camptothecin-induced damage to replicating DNA discriminates between obligate A-T heterozygotes, A-T homozygotes and controls. Biosci Rep24(6):617-29 2004
PubMed ID: 16158199
 
Yuan JH, Feng Y, Fisher RH, Maloid S, Longo DL, Ferris DK, Polo-like kinase 1 inactivation following mitotic DNA damaging treatments is independent of ataxia telangiectasia mutated kinase Molecular cancer research : MCR2:417-26 2004
PubMed ID: 15280449
 
Karlseder J, Broccoli D, Dai Y, Hardy S, de Lange T, p53- and ATM-dependent apoptosis induced by telomeres lacking TRF2. Science283(5406):1321-5 1999
PubMed ID: 10037601
 
Myung K, Braastad C, He DM, Hendrickson EA, KARP-1 is induced by DNA damage in a p53- and ataxia telangiectasia mutated-dependent fashion. Proc Natl Acad Sci U S A95:7664-9 1998
PubMed ID: 9636207
 
Sasaki T, Tian H, Kukita Y, Inazuka M, Tahira T, Imai T, Yamauchi M, Saito T, Hori T, Hashimoto-Tamaoki T, Komatsu K, Nikaido O, Hayashi K, ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. Hum Mutat12(3):186-95 1998
PubMed ID: 9711876
 
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
 
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
No data is available
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

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