• Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp2638Ter (c.7913G>A); ClinVar=VCV000141233; Zygosity=Homozygous (Coriell=GM03395).
  

PubMed=7104995
Timothy James Kinsella, James B. Mitchell, Scott McPherson, Angelo Russo, Frank Tietze;
In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions.
Cancer Res. 42:3950-3956(1982)

PubMed=6409440; DOI=10.1093/carcin/4.7.911
Paul J. Smith, Mark H. Greene, Deborah Adams, Malcolm C. Paterson;
Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of cultured fibroblasts from patients with dysplastic nevus syndrome and hereditary cutaneous malignant melanoma.
Carcinogenesis 4:911-916(1983)

PubMed=6726265; DOI=10.1136/jnnp.47.4.391; PMCID=PMC1027781
Jay H. Robbins, Dominic A. Scudiero, Fujio Otsuka, Robert E. Tarone, Roger Alan Brumback, Jonathan D. Wirtschafter, Ronald J. Polinsky, Susanna F. Barrett, Alan N. Moshell, Ronald G. Scarpinato, Mary Bruce Ganges ...Show all 14 authors... , Linda E. Nee, Sharon A. Meyer, Brian E. Clatterbuck; Show fewer authors
Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.
J. Neurol. Neurosurg. Psychiatry 47:391-398(1984)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=11080496; DOI=10.1074/jbc.M006190200
Nuri Gueven, Katherine E. Keating, Philip Chen, Toshiyuki Fukao, Kum Kum Khanna, Dianne Watters, Peter H. Rodemann, Martin Francis Lavin;
Epidermal growth factor sensitizes cells to ionizing radiation by down-regulating protein mutated in ataxia-telangiectasia.
J. Biol. Chem. 276:8884-8891(2001)