• Mutation; HGNC; HGNC:795; ATM; Simple; p.Phe1774Lysfs*17 (c.5320_5326del) (c.5320del7); Zygosity=Heterozygous (Coriell=GM09607).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp2769Ter (c.8307G>A); ClinVar=VCV000189104; Zygosity=Heterozygous (Coriell=GM09607).
  

PubMed=2987007; DOI=10.1016/0014-4827(85)90437-9
John Patrick Murnane, Lloyd F. Fuller, Robert Blair Painter;
Establishment and characterization of a permanent pSV ori-transformed ataxia-telangiectasia cell line.
Exp. Cell Res. 158:119-126(1985)

PubMed=2903889; DOI=10.1080/09553008814552321
Colin Francis Arlett, Michael H.L. Green, Anne Priestley, Susan A. Harcourt, Lynne V. Mayne;
Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes.
Int. J. Radiat. Biol. 54:911-928(1988)

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=9357546; DOI=10.1016/S0027-5107(97)00119-x
Carl N. Sprung, Tracy M. Bryan, Roger Robert Reddel, John Patrick Murnane;
Normal telomere maintenance in immortal ataxia telangiectasia cell lines.
Mutat. Res. 379:177-184(1997)

PubMed=11172010; DOI=10.1073/pnas.98.4.1676; PMCID=PMC29316
Shani Peretz, Ryan B. Jensen, Renato Baserga, Peter M. Glazer;
ATM-dependent expression of the insulin-like growth factor-I receptor in a pathway regulating radiation response.
Proc. Natl. Acad. Sci. U.S.A. 98:1676-1681(2001)

PubMed=24142626; DOI=10.1002/gcc.22115; PMCID=PMC5520977
Rahul Atul Parikh, Leonard J. Appleman, Julie E. Bauman, Madhav Sankunny, Dale W. Lewis, Anda Vlad, Susanne M. Gollin;
Upregulation of the ATR-CHEK1 pathway in oral squamous cell carcinomas.
Genes Chromosomes Cancer 53:25-37(2014)