• Mutation; HGNC; HGNC:795; ATM; Simple; p.Leu2427_Arg2428del (c.7278_7283delCCTTAG); ClinVar=VCV000003020; Zygosity=Heterozygous (from parent cell line).
  

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=2821020; DOI=10.1242/jcs.1984.Supplement_6.8
Michael H.L. Green, Jill E. Lowe, Colin Francis Arlett, Susan A. Harcourt, Julian F. Burke, Michael R. James, Alan R. Lehmann, Susan Povey;
A gamma-ray-resistant derivative of an ataxia telangiectasia cell line obtained following DNA-mediated gene transfer.
J. Cell Sci. Suppl. 6:127-137(1987)

PubMed=3023120; DOI=10.1016/0014-4827(87)90418-6
Peter Hahn, Leon N. Kapp, Robert Blair Painter;
Establishment and characterization of two human cell lines with amplified dihydrofolate reductase genes.
Exp. Cell Res. 168:89-94(1987)

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=9650596; DOI=10.2307/3579639
Louise Enns, Randy D.C. Barley, Malcolm C. Paterson, Razmik Mirzayans;
Radiosensitivity in ataxia telangiectasia fibroblasts is not associated with deregulated apoptosis.
Radiat. Res. 150:11-16(1998)

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=12419185; DOI=10.1016/S0960-9822(02)01259-9
Junya Kobayashi, Hiroshi Tauchi, Shuichi Sakamoto, Asako Nakamura, Ken-ichi Morishima, Shinya Matsuura, Toshiko Kobayashi, Katsuyuki Tamai, Keiji Tanimoto, Kenshi Komatsu;
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
Curr. Biol. 12:1846-1851(2002)

PubMed=14555701
Masood A. Shammas, Robert Joseph Shmookler Reis, Masaharu Akiyama, Hemanta Koley, Dharminder Chauhan, Teru Hideshima, Raj K. Goyal, Laurence H. Hurley, Kenneth Carl Anderson, Nikhil C. Munshi;
Telomerase inhibition and cell growth arrest by G-quadruplex interactive agent in multiple myeloma.
Mol. Cancer Ther. 2:825-833(2003)

PubMed=18757420; DOI=10.1158/0008-5472.CAN-08-0545; PMCID=PMC2528059
Susanne Burdak-Rothkamm, Kai Rothkamm, Kevin M. Prise;
ATM acts downstream of ATR in the DNA damage response signaling of bystander cells.
Cancer Res. 68:7059-7065(2008)