Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class Repair Defective and Chromosomal Instability Syndromes
Class Syndromes with Increased Chromosome Breakage
Cell Type Fibroblast
Transformant Untransformed
Race Caucasian
Family Member 1
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks ATH15Be; clinically unaffected; normal sensitivity to cell killing by X-irradiation; a 4bp insertion at nucleotide 1141 (1141ins4) in exon 11 results in a frameshift and truncation at codon 381 (S381X); father of 2 affected children (1 child is GM03189-LCL/GM03487-Fibro and other child is not in the repository); spouse of GM03188(LCL)/GM03489(Fibro); see GM03187 for donor LCL.
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene ATM
Chromosomal Location 11q22.3
Allelic Variant 1 S381fsX; ATAXIA-TELANGIECTASIA
Identified Mutation 1141ins4
Remark ATH15Be; clinically unaffected; normal sensitivity to cell killing by X-irradiation; a 4bp insertion at nucleotide 1141 (1141ins4) in exon 11 results in a frameshift and truncation at codon 381 (S381X); father of 2 affected children (1 child is GM03189-LCL/GM03487-Fibro and other child is not in the repository); spouse of GM03188(LCL)/GM03489(Fibro); see GM03187 for donor LCL.
Rhodes N, D'Souza T, Foster CD, Ziv Y, Kirsch DG, Shiloh Y, Kastan MB, Reinhart PH, Gilmer TM, Defective potassium currents in ataxia telangiectasia fibroblasts. Genes Dev12:3686-92 1998
PubMed ID: 9851975
 
Nagasawa H, Little JB, Tsang NM, Saunders E, Tesmer J, Strniste GF, Effect of dose rate on the survival of irradiated human skin fibroblasts. Radiat Res132:375-9 1992
PubMed ID: 1475361
 
Meredith MJ, Dodson ML, Imparied glutathione biosynthesis in cultured human ataxia- telangiectasia cells. Cancer Res47:4576-81 1987
PubMed ID: 3621155
 
Nagasawa H, Latt SA, Lalande ME, Little JB, Effects of X-irradiation on cell-cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts. Mutat Res148:71-82 1985
PubMed ID: 3969079
 
Zwelling LA, Kerrigan D, Mattern MR, Ataxia-telangiectasia cells are not uniformly deficient in poly(ADP- ribose) synthesis following X-irradiation. Mutat Res120:69-78 1983
PubMed ID: 6835265
 
Kinsella TJ, Mitchell JB, McPherson S, Russo A, Tietze F, In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. Cancer Res42:3950-6 1982
PubMed ID: 7104995
No data is available
Passage Frozen 6
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA