Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
GM03188 LCL from B-Lymphocyte

Description:

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

Affected:

No

Sex:

Female

Age:

36 YR (At Sampling)

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

Overview

back to top
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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks ATH16Be; clinically unaffected; an A>T substitution at nucleotide 8266 (8266A>T) in exon 58 causes a truncation at codon 2756 [Lys2756ter (K2756X)]; mother of 2 affected children (1 child is GM03189-LCL/GM03487-Fibro and other child is not in the repository); spouse of GM03187(LCL)/GM03488(Fibro); see GM03489 for donor Fibroblast;

Characterizations

back to top
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 LYS2756TER; ATAXIA-TELANGIECTASIA
Identified Mutation 8266A>T

Phenotypic Data

back to top
Remarks ATH16Be; clinically unaffected; an A>T substitution at nucleotide 8266 (8266A>T) in exon 58 causes a truncation at codon 2756 [Lys2756ter (K2756X)]; mother of 2 affected children (1 child is GM03189-LCL/GM03487-Fibro and other child is not in the repository); spouse of GM03187(LCL)/GM03488(Fibro); see GM03489 for donor Fibroblast;

Publications

back to top
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
 
Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ, kConFab Investigators PJ, Taylor D, Grimmond S, Khanna KK, Chenevix-Trench G, Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling Genes, chromosomes & cancer45:1169-81 2006
PubMed ID: 17001622
 
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
 
Manola KN, Terzoudi GI, Dardoufas CE, Malik SI, Pantelias GE, Radioprotective effect of amifostine on cells from cancer prone patients and healthy individuals studied by the G2 and PCC assays International journal of radiation biology79:831-8 2003
PubMed ID: 14630542
 
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
 
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
 
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
 
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
 
Meredith MJ, Dodson ML, Imparied glutathione biosynthesis in cultured human ataxia- telangiectasia cells. Cancer Res47:4576-81 1987
PubMed ID: 3621155
 
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

External Links

back to top
dbSNP dbSNP ID: 10617
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: GSM1116563
GEO Accession No: GSM1116564
GEO Accession No: GSM1116605
GEO Accession No: GSM1116606
GEO Accession No: GSM1116607
GEO Accession No: GSM1116608
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

back to top
Split Ratio 1:5
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
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • NA03188 - DNA
Same Family
  • 516
Miscellaneous
  • DNA on Demand
  • Custom Services

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

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

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

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube