GM03332

GM03332 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

Overview

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

Black/African American

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; same donor as GM03395 Fibroblast; a deceased sister also had AT; lymphoid culture shows hypersensitivity to X-irradiation; parents are GM03334 and GM03382; donor subject is homozygous for 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)]

Characterizations

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

W2638X; ATAXIA-TELANGIECTASIA

Identified Mutation

TRP2638TER

Gene

ATM

Chromosomal Location

11q22.3

Allelic Variant 2

W2638X; ATAXIA-TELANGIECTASIA

Identified Mutation

TRP2638TER

Phenotypic Data

Remarks

Publications

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

Bhalla K, Jaber S, Reagan K, Hamburg A, Underwood KF, Jhajharia A, Singh M, Bhandary B, Bhat S, Nanaji NM, Hisa R, McCracken C, Creasy HH, Lapidus RG, Kingsbury T, Mayer D, Polster B, Gartenhaus RB, SIRT3, a metabolic target linked to ataxia-telangiectasia mutated (ATM) gene deficiency in diffuse large B-cell lymphoma Scientific reports10:21159 2020

PubMed ID: 33273545

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

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

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

Lin WC, Lin FT, Nevins JR, Selective induction of E2F1 in response to DNA damage, mediated by ATM-dependent phosphorylation. Genes Dev15(14):1833-44 2001

PubMed ID: 11459832

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

Siliciano JD, Canman CE, Taya Y, Sakaguchi K, Appella E, Kastan MB, DNA damage induces phosphorylation of the amino terminus of p53. Genes Dev11:3471-81 1997

PubMed ID: 9407038

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

Taylor YC, Duncan PG, Zhang X, Wright WD, Differences in the DNA supercoiling response of irradiated cell lines from ataxia-telangiectasia versus unaffected individuals. Int J Radiat Biol59:359-71 1991

PubMed ID: 1671687

Taylor YC, Zhang XF, Parsian AJ, Duncan PG, Image analysis-based measurement of DNA supercoiling changes in transformed and nontransformed human cell lines. Exp Cell Res197:222-8 1991

PubMed ID: 1659987

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

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