• Mutation; HGNC; 795; ATM; Simple; p.Phe1774Lysfs*17 (c.5320_5326del) (c.5320del7); Zygosity=Heterozygous (Coriell=GM09607).
  
• Mutation; 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
Murnane J.P., Fuller L.F., Painter R.B.
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
Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.
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
Mulivor R.A., Suchy S.F.
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
Sprung C.N., Bryan T.M., Reddel R.R., Murnane J.P.
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
Peretz S., Jensen R.B., Baserga R., Glazer P.M.
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
Parikh R.A., Appleman L.J., Bauman J.E., Sankunny M., Lewis D.W., Vlad A., Gollin S.M.
Upregulation of the ATR-CHEK1 pathway in oral squamous cell carcinomas.
Genes Chromosomes Cancer 53:25-37(2014)