• Mutation; 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
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=2821020; DOI=10.1242/jcs.1984.Supplement_6.8
Green M.H.L., Lowe J.E., Arlett C.F., Harcourt S.A., Burke J.F., James M.R., Lehmann A.R., Povey S.
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
Hahn P., Kapp L.N., Painter R.B.
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
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (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=9650596; DOI=10.2307/3579639
Enns L., Barley R.D.C., Paterson M.C., Mirzayans R.
Radiosensitivity in ataxia telangiectasia fibroblasts is not associated with deregulated apoptosis.
Radiat. Res. 150:11-16(1998)

PubMed=11172010; DOI=10.1073/pnas.041416598
Peretz S., Jensen R., 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=12419185; DOI=10.1016/S0960-9822(02)01259-9
Kobayashi J., Tauchi H., Sakamoto S., Nakamura A., Morishima K.-i., Matsuura S., Kobayashi T., Tamai K., Tanimoto K., Komatsu K.
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
Curr. Biol. 12:1846-1851(2002)

PubMed=14555701
Shammas M.A., Shmookler Reis R.J., Akiyama M., Koley H., Chauhan D., Hideshima T., Goyal R.K., Hurley L.H., Anderson K.C., Munshi N.C.
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
Burdak-Rothkamm S., Rothkamm K., Prise K.M.
ATM acts downstream of ATR in the DNA damage response signaling of bystander cells.
Cancer Res. 68:7059-7065(2008)