ID   AT7LA
AC   CVCL_H134
SY   Ataxia Telangiectasia 7 Los Angeles; GM00717; GM-717; GM 717; GM717; GM00717A; GM-0717A; GM 717A; GM717A
DR   CLO; CLO_0028790
DR   Coriell; GM00717
DR   Wikidata; Q54836411
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=761484;
RX   PubMed=1561323;
RX   PubMed=2805228;
RX   PubMed=6197197;
RX   PubMed=6504056;
RX   PubMed=7539412;
RX   PubMed=8808599;
RX   PubMed=18634022;
CC   Sequence variation: 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).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 21
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=761484; DOI=10.1159/000131301;
RA   Cohen M.M., Sagi M., Ben-Zur Z., Schaap T., Voss R., Kohn G.,
RA   Ben-Bassat H.;
RT   "Ataxia telangiectasia: chromosomal stability in continuous
RT   lymphoblastoid cell lines.";
RL   Cytogenet. Cell Genet. 23:44-52(1979).
//
RX   PubMed=1561323; DOI=10.2307/3578485;
RA   Pandita T.K., Hittelman W.N.;
RT   "Initial chromosome damage but not DNA damage is greater in ataxia
RT   telangiectasia cells.";
RL   Radiat. Res. 130:94-103(1992).
//
RX   PubMed=2805228; DOI=10.1093/carcin/10.11.2067;
RA   Arita I., Tachibana A., Takebe H., Tatsumi K.;
RT   "Predominance of Mex+ cells in newly-established human lymphoblastoid
RT   cell lines.";
RL   Carcinogenesis 10:2067-2073(1989).
//
RX   PubMed=6197197; DOI=10.1016/0009-2797(83)90167-9;
RA   Imray F.P., Kidson C.;
RT   "Responses of Huntington's disease and ataxia telangiectasia
RT   lymphoblastoid cells to bleomycin.";
RL   Chem. Biol. Interact. 47:325-336(1983).
//
RX   PubMed=6504056; DOI=10.1016/0027-5107(84)90149-0;
RA   Chen P., Imray F.P., Kidson C.;
RT   "Gene dosage and complementation analysis of ataxia telangiectasia
RT   lymphoblastoid cell lines assayed by induced chromosome
RT   aberrations.";
RL   Mutat. Res. 129:165-172(1984).
//
RX   PubMed=7539412; DOI=10.1002/ijc.2910610524;
RA   Pandita T.K., Hittelman W.N.;
RT   "Evidence of a chromatin basis for increased mutagen sensitivity
RT   associated with multiple primary malignancies of the head and neck.";
RL   Int. J. Cancer 61:738-743(1995).
//
RX   PubMed=8808599;
RA   Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D.,
RA   Concannon P.;
RT   "A high frequency of distinct ATM gene mutations in
RT   ataxia-telangiectasia.";
RL   Am. J. Hum. Genet. 59:839-846(1996).
//
RX   PubMed=18634022; DOI=10.1002/humu.20805;
RA   Mitui M., Nahas S.A., Du L.T., Yang Z., Lai C.H., Nakamura K.,
RA   Arroyo S., Scott S., Purayidom A., Concannon P., Lavin M.F.,
RA   Gatti R.A.;
RT   "Functional and computational assessment of missense variants in the
RT   ataxia-telangiectasia mutated (ATM) gene: mutations with increased
RT   cancer risk.";
RL   Hum. Mutat. 30:12-21(2009).
//