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Cellosaurus AT1ABR (CVCL_M911)

[Text version]

Cell line name AT1ABR
Synonyms Ataxia Telangiectasia 1 Australia BRisbane
Accession CVCL_M911
Resource Identification Initiative To cite this cell line use: AT1ABR (RRID:CVCL_M911)
Comments From: Queensland Institute of Medical Research; Brisbane; Australia.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Homozygous (PubMed=7792600; PubMed=9150358).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling Age unspecified
Category Transformed cell line

PubMed=7433105; DOI=10.1093/nar/8.16.3709
Houldsworth J., Lavin M.F.
Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells.
Nucleic Acids Res. 8:3709-3720(1980)

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=6228733; DOI=10.1016/0167-8817(83)90030-5
Imray F.P., Kidson C.
Perturbations of cell-cycle progression in gamma-irradiated ataxia telangiectasia and Huntington's disease cells detected by DNA flow cytometric analysis.
Mutat. Res. 112:369-382(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=2836804; DOI=10.1093/nar/16.9.3919
Singh S.P., Mohamed R., Salmond C., Lavin M.F.
Reduced DNA topoisomerase II activity in ataxia-telangiectasia cells.
Nucleic Acids Res. 16:3919-3929(1988)

PubMed=7792600; DOI=10.1126/science.7792600
Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., Tagle D.A., Smith S., Uziel T., Sfez S., Ashkenazi M., Pecker I., Frydman M., Harnik R., Patanjali S.R., Simmons A.D., Clines G.A., Sartiel A., Gatti R.A., Chessa L., Sanal O., Lavin M.F., Jaspers N.G.J., Taylor A.M.R., Arlett C.F., Miki T., Weissman S.M., Lovett M., Collins F.S., Shiloh Y.
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
Science 268:1749-1753(1995)

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

PubMed=9150358; DOI=10.1038/sj.onc.1201037
Watters D., Khanna K.K., Beamish H.J., Birrell G., Spring K., Kedar P., Gatei M., Stenzel D., Hobson K., Kozlov S., Zhang N., Farrell A., Ramsay J., Gatti R.A., Lavin M.F.
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
Oncogene 14:1911-1921(1997)

PubMed=9168117; DOI=10.1038/387520a0
Shafman T., Khanna K.K., Kedar P., Spring K., Kozlov S., Yen T., Hobson K., Gatei M., Zhang N., Watters D., Egerton M., Shiloh Y., Kharbanda S., Kufe D.W., Lavin M.F.
Interaction between ATM protein and c-Abl in response to DNA damage.
Nature 387:520-523(1997)

PubMed=11080496; DOI=10.1074/jbc.M006190200
Gueven N., Keating K.E., Chen P., Fukao T., Khanna K.K., Watters D., Rodemann P.H., Lavin M.F.
Epidermal growth factor sensitizes cells to ionizing radiation by down-regulating protein mutated in ataxia-telangiectasia.
J. Biol. Chem. 276:8884-8891(2001)

PubMed=12195425; DOI=10.1038/ng958
Spring K., Ahangari F., Scott S.P., Waring P., Purdie D.M., Chen P.C., Hourigan K., Ramsay J., McKinnon P.J., Swift M., Lavin M.F.
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.
Nat. Genet. 32:185-190(2002)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L., Notaro R., Luzzatto L.
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

PubMed=21149446; DOI=10.1074/jbc.M110.204065
Kozlov S.V., Graham M.E., Jakob B., Tobias F., Kijas A.W., Tanuji M., Chen P., Robinson P.J., Taucher-Scholz G., Suzuki K., So S., Chen D., Lavin M.F.
Autophosphorylation and ATM activation: additional sites add to the complexity.
J. Biol. Chem. 286:9107-9119(2011)

Anatomy/cell type resources BTO; BTO:0006125
Encyclopedic resources Wikidata; Q54750838
Entry history
Entry creation05-Nov-2013
Last entry update23-Sep-2021
Version number15