Cellosaurus cell line AT7LA (CVCL_H134)

• Mutation; HGNC; 795; ATM; Simple; p.Glu522Ilefs (c.1564_1565delGA) (1563_1564delAG); ClinVar=VCV000127340; Zygosity=Homozygous; Note=Produces no detectable ATM protein by conventional immunoblotting (PubMed=8808599; PubMed=18634022).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=761484; DOI=10.1159/000131301
Cohen M.M., Sagi M., Ben-Zur Z., Schaap T., Voss R., Kohn G., Ben-Bassat H.
Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.
Cytogenet. Cell Genet. 23:44-52(1979)

PubMed=6197197; DOI=10.1016/0009-2797(83)90167-9
Imray F.P., Kidson C.
Responses of Huntington's disease and ataxia telangiectasia lymphoblastoid cells to bleomycin.
Chem. Biol. Interact. 47:325-336(1983)

PubMed=6504056; DOI=10.1016/0027-5107(84)90149-0
Chen P., Imray F.P., Kidson C.
Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations.
Mutat. Res. 129:165-172(1984)

PubMed=2805228; DOI=10.1093/carcin/10.11.2067
Arita I., Tachibana A., Takebe H., Tatsumi K.
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

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=1561323; DOI=10.2307/3578485
Pandita T.K., Hittelman W.N.
Initial chromosome damage but not DNA damage is greater in ataxia telangiectasia cells.
Radiat. Res. 130:94-103(1992)

PubMed=7539412; DOI=10.1002/ijc.2910610524
Pandita T.K., Hittelman W.N.
Evidence of a chromatin basis for increased mutagen sensitivity associated with multiple primary malignancies of the head and neck.
Int. J. Cancer 61:738-743(1995)

PubMed=8808599
Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D., Concannon P.
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Am. J. Hum. Genet. 59:839-846(1996)

PubMed=18634022; DOI=10.1002/humu.20805
Mitui M., Nahas S.A., Du L.T., Yang Z., Lai C.H., Nakamura K., Arroyo S., Scott S., Purayidom A., Concannon P., Lavin M.F., Gatti R.A.
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
Hum. Mutat. 30:12-21(2009)