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GM03334 LCL from B-Lymphocyte

Description:

ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

Affected:

No

Sex:

Female

Age:

42 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
Hereditary Cancers
Chromosome Abnormalities
Class Repair Defective and Chromosomal Instability Syndromes
Class Syndromes with Increased Chromosome Breakage
Alternate IDs GM17156 [ATAXIA-TELANGIECTASIA; AT]
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 3
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected; 2 affected children including GM03332; same donor as GM03396 Fibroblast; donor subject has a G>A transition at nucleotide 7913 in exon 55 of the ATM gene (7913G>A) resulting in a substitution of a termination codon for tryptophan at codon 2638 [Trp2638Ter (W2638X)] on one allele

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.
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 1 W2638X; ATAXIA-TELANGIECTASIA
Identified Mutation TRP2638TER

Phenotypic Data

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Remarks Clinically unaffected; 2 affected children including GM03332; same donor as GM03396 Fibroblast; donor subject has a G>A transition at nucleotide 7913 in exon 55 of the ATM gene (7913G>A) resulting in a substitution of a termination codon for tryptophan at codon 2638 [Trp2638Ter (W2638X)] on one allele

Publications

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Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021
PubMed ID: 35394024
 
Loke J, Alim I, Yam S, Klugman S, Xia LC, Gruber D, Tegay D, LaBella A, Onel K, Ostrer H, Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells HGG advances3:100085 2021
PubMed ID: 35146455
 
Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004
PubMed ID: 15782172
 
Watts JA, Morley M, Burdick JT, Fiori JL, Ewens WJ, Spielman RS, Cheung VG, Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet71(4):791-800 2002
PubMed ID: 12226795
 
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
 
Pandita TK, Hittelman WN, Increased initial levels of chromosome damage and heterogeneous chromosome repair in ataxia telangiectasia heterozygote cells. Mutat Res310:1-13 1994
PubMed ID: 7523872

External Links

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dbSNP dbSNP ID: 10642
Gene Cards ATM
Gene Ontology GO:0003677 DNA binding
GO:0003700 transcription factor activity
GO:0004674 protein serine/threonine kinase activity
GO:0005622 intracellular
GO:0005634 nucleus
GO:0006281 DNA repair
GO:0006355 regulation of transcription, DNA-dependent
GO:0007131 meiotic recombination
GO:0007165 signal transduction
GO:0016740 transferase activity
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0045786 negative regulation of cell cycle
GEO GEO Accession No: GSM1116565
GEO Accession No: GSM1116566
GEO Accession No: GSM1116609
GEO Accession No: GSM1116610
GEO Accession No: GSM1116611
GEO Accession No: GSM1116612
NCBI Gene Gene ID:472
NCBI GTR 208900 ATAXIA-TELANGIECTASIA; AT
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
OMIM 208900 ATAXIA-TELANGIECTASIA; AT
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
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%
Percent O2 AMBIENT
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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