ID   AT2BI LCL
AC   CVCL_7321
SY   Ataxia Telangiectasia 2 BIrmingham LCL; GM01525; GM-1525; GM 1525; GM1525; GM01525C; GM-1525C; GM 1525C
DR   CLO; CLO_0031475
DR   BioSample; SAMN00806892
DR   Coriell; GM01525
DR   JCRB; KURB1106
DR   Wikidata; Q54836882
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=761484;
RX   PubMed=837385;
RX   PubMed=1561323;
RX   PubMed=6197197;
RX   PubMed=7539412;
RX   PubMed=16166284;
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Arg2136Ter (c.6404_6405insTT) (p.Leu2135_Arg2136insTer) (6404insTT); ClinVar=VCV000220763; Zygosity=Heterozygous (Coriell=GM01525).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Misspelling: GM1524; Note=In Patent US5955279.
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   Female
AG   19Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 27
//
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=837385;
RA   Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A.,
RA   de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.;
RT   "Repair of ultraviolet light damage in a variety of human fibroblast
RT   cell strains.";
RL   Cancer Res. 37:904-910(1977).
//
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=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=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=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L.,
RA   Notaro R., Luzzatto L.;
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//