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Cellosaurus GM00717 (CVCL_H134)

[Text version]

Cell line name GM00717
Synonyms GM-717; GM 717; GM717; GM-0717A; GM00717A; GM717A; AT7LA
Accession CVCL_H134
Resource Identification Initiative To cite this cell line use: GM00717 (RRID:CVCL_H134)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Sequence variations Homozygous for ATM p.Glu522Ilefs (c.1564_1565delGA) (1563_1564delAG); produces no detectable ATM protein by conventional immunoblotting (PubMed=18634022).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
Category Transformed cell line

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)

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=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)

Cell line collections Coriell; GM00717
Ontologies CLO; CLO_0028790
Other Wikidata; Q54836411
Entry history
Entry creation11-Feb-2013
Last entry updated25-Feb-2019
Version number12