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 3
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks AT4Be; clinically affected; neurological abnormalities; lymphoid culture shows hypersensitivity to X-irradiation; compound heterozygote; the maternal allele carries an A>T substitution at nucleotide 8266 (8266A>T) in exon 58 resulting in a truncation at codon 2756 [Lys2756Ter (K2756X)] and the paternal allele carries a 4bp insertion at nucleotide 1141 in exon 11 resulting in a frameshift at codon 381 leading to a truncation (S381fsX); similarly affected sibling (not in repository); 3 other unaffected sibilings are in repository (see family 516); father(GM03187-LCL/GM03488-Fibro) and mother(GM03188-LCL/GM03489-Fibro) are unaffected carriers; see GM03487 for donor Fibroblast;
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 positive result with a primer for Yq11, DYS227.
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 1 LYS2756TER; ATAXIA-TELANGIECTASIA
Identified Mutation 8266A>T
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 2 S381fsX; ATAXIA-TELANGIECTASIA
Identified Mutation 1141ins4
Remark AT4Be; clinically affected; neurological abnormalities; lymphoid culture shows hypersensitivity to X-irradiation; compound heterozygote; the maternal allele carries an A>T substitution at nucleotide 8266 (8266A>T) in exon 58 resulting in a truncation at codon 2756 [Lys2756Ter (K2756X)] and the paternal allele carries a 4bp insertion at nucleotide 1141 in exon 11 resulting in a frameshift at codon 381 leading to a truncation (S381fsX); similarly affected sibling (not in repository); 3 other unaffected sibilings are in repository (see family 516); father(GM03187-LCL/GM03488-Fibro) and mother(GM03188-LCL/GM03489-Fibro) are unaffected carriers; see GM03487 for donor Fibroblast;
Asumen MG, Ifeacho TV, Cockerham L, Pfandl C, Wall NR, Dynamic changes to survivin subcellular localization are initiated by DNA damage OncoTargets and therapy3:129-37 2010
PubMed ID: 20856848
 
Boehme KA, Kulikov R, Blattner C, p53 stabilization in response to DNA damage requires Akt/PKB and DNA-PK Proceedings of the National Academy of Sciences of the United States of America105:7785-90 2008
PubMed ID: 18505846
 
Pennarun G, Granotier C, Hoffschir F, Mandine E, Biard D, Gauthier LR, Boussin FD, Role of ATM in the telomere response to the G-quadruplex ligand 360A Nucleic acids research36:1741-54 2008
PubMed ID: 18263609
 
Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M, Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling Nature genetics40:232-6 2007
PubMed ID: 18157127
 
Ho CC, Siu WY, Lau A, Chan WM, Arooz T, Poon RY, Stalled replication induces p53 accumulation through distinct mechanisms from DNA damage checkpoint pathways Cancer research66:2233-41 2006
PubMed ID: 16489026
 
Innes CL, Heinloth AN, Flores KG, Sieber SO, Deming PB, Bushel PR, Kaufmann WK, Paules RS, ATM requirement in gene expression responses to ionizing radiation in human lymphoblasts and fibroblasts. Mol Cancer Res4(3):197-207 2006
PubMed ID: 16547157
 
Jen KY, Cheung VG, Identification of novel p53 target genes in ionizing radiation response. Cancer Res65(17):7666-73 2005
PubMed ID: 16140933
 
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
 
Stiff T, Reis C, Alderton GK, Woodbine L, O'Driscoll M, Jeggo PA, Nbs1 is required for ATR-dependent phosphorylation events. EMBO J24(1):199-208 2005
PubMed ID: 15616588
 
Alderton GK, Joenje H, Varon R, Borglum AD, Jeggo PA, O'Driscoll M, Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum Mol Genet13(24):3127-38 2004
PubMed ID: 15496423
 
Siu WY, Lau A, Arooz T, Chow JP, Ho HT, Poon RY, Topoisomerase poisons differentially activate DNA damage checkpoints through ataxia-telangiectasia mutated-dependent and -independent mechanisms. Mol Cancer Ther3(5):621-32 2004
PubMed ID: 15141020
 
Ng CP, Lee HC, Ho CW, Arooz T, Siu WY, Lau A, Poon RY, Differential mode of regulation of the checkpoint kinases CHK1 and CHK2 by their regulatory domains. J Biol Chem279(10):8808-19 2004
PubMed ID: 14681223
 
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
 
Pichierri P, Rosselli F, Franchitto A, Werner's syndrome protein is phosphorylated in an ATR/ATM-dependent manner following replication arrest and DNA damage induced during the S phase of the cell cycle Oncogene22:1491-500 2003
PubMed ID: 12629512
 
Wang W, Takimoto R, Rastinejad F, El-Deiry WS, Stabilization of p53 by CP-31398 inhibits ubiquitination without altering phosphorylation at serine 15 or 20 or MDM2 binding. Mol Cell Biol23(6):2171-81 2003
PubMed ID: 12612087
 
Chow JP, Siu WY, Fung TK, Chan WM, Lau A, Arooz T, Ng CP, Yamashita K, Poon RY, DNA damage during the spindle-assembly checkpoint degrades CDC25A, inhibits cyclin-CDC2 complexes, and reverses cells to interphase. Mol Biol Cell14(10):3989-4002 2003
PubMed ID: 14517313
 
Angele S, Romestaing P, Moullan N, Vuillaume M, Chapot B, Friesen M, Jongmans W, Cox DG, Pisani P, Gerard JP, Hall J, ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. Cancer Res63(24):8717-25 2003
PubMed ID: 14695186
 
Franchitto A, Pichierri P, Bloom's syndrome protein is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest. J Cell Biol157(1):19-30 2002
PubMed ID: 11916980
 
Deming PB, Cistulli CA, Zhao H, Graves PR, Piwnica-Worms H, Paules RS, Downes CS, Kaufmann WK, The human decatenation checkpoint. Proc Natl Acad Sci U S A98(21):12044-9 2001
PubMed ID: 11593014
 
Dantzer F, Menissier-de Murcia J, Barlow C, Wynshaw-Boris A, de Murcia G, Poly(ADP-ribose) polymerase activity is not affected in ataxia telangiectasia cells and knockout mice. Carcinogenesis20:177-80 1999
PubMed ID: 9934867
 
Will O, Mahler HC, Arrigo AP, Epe B, Influence of glutathione levels and heat-shock on the steady-state levels of oxidative DNA base modifications in mammalian cells. Carcinogenesis20:333-7 1999
PubMed ID: 10069473
 
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
 
Jongmans W, Vuillaume M, Chrzanowska K, Smeets D, Sperling K, Hall J, Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation. Mol Cell Biol17(9):5016-22 1997
PubMed ID: 9271379
 
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
 
Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA, Ataxia-telangiectasia: mutations in ATM cDNA detected by protein- truncation screening. Am J Hum Genet59:40-4 1996
PubMed ID: 8659541
 
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
 
Chen G, Lee EYHP, The product of the ATM gene is a 370-kDa nuclear phosphoprotein. J Biol Chem271:33693-7 1996
PubMed ID: 8969240
 
Kastan MB, Zhan Q, el-Deiry WS, Carrier F, Jacks T, Walsh WV, Plunkett BS, Vogelstein B, Fornace AJ Jr, A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell71:587-97 1992
PubMed ID: 1423616
 
Karam LR, Calsou P, Franklin WA, Painter RB, Olsson M, Lindahl T, Modification of deoxyribose-phosphate residues by extracts of ataxia telangiectasia cells. Mutat Res236:19-26 1990
PubMed ID: 2366795
 
Meredith MJ, Dodson ML, Imparied glutathione biosynthesis in cultured human ataxia- telangiectasia cells. Cancer Res47:4576-81 1987
PubMed ID: 3621155
 
Berliner N, Duby AD, Morton CC, Leder P, Seidman JG, Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus. A potential diagnostic tool. J Clin Invest76:1283-5 1985
PubMed ID: 2995449
 
Kraemer KH, Soares N, Waters HL, Bustin M, Effect of X-radiation on DNA and histone synthesis in ataxia telangiectasia and normal lymphoblastoid cells. Mutat Res112:359-67 1983
PubMed ID: 6656798
 
Kohn PH, Kraemer KH, Buchanan JK, Influence of ataxia telangiectasia gene dosage on bleomycin-induced chromosome breakage and inhibition of replication in human lymphoblastoid cell lines. Exp Cell Res137:387-95 1982
PubMed ID: 6173245
 
Kraemer KH, Waters HL, Buchanan JK, Survival of human lymphoblastoid cells after DNA damage measured by growth in microtiter wells. Mutat Res72:285-94 1980
PubMed ID: 6160397
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

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org
(800) 752-3805 • (856) 757-4848

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2019 Coriell Institute. All rights reserved.