ID   GM02052
AC   CVCL_7350
SY   GM-2052; GM 2052; GM2052; GM02052A; AT19IJE-F
DR   CLO; CLO_0032553
DR   BioSample; SAMN00807434
DR   Coriell; GM02052
DR   Wikidata; Q54837268
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=761484;
RX   PubMed=12446774;
RX   PubMed=11313956;
RX   PubMed=19896956;
CC   Population: Jewish; Moroccan.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Arg35Ter (c.103C>T); ClinVar=VCV000003025; Zygosity=Homozygous (Coriell=GM02052).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; 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=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002;
RA   Heffernan T.P., Simpson D.A., Frank A.R., Heinloth A.N., Paules R.S.,
RA   Cordeiro-Stone M., Kaufmann W.K.;
RT   "An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation
RT   following UVC-induced DNA damage.";
RL   Mol. Cell. Biol. 22:8552-8561(2002).
//
RX   PubMed=11313956; DOI=10.1038/sj.onc.1204072;
RA   Wood L.D., Halvorsen T.L., Dhar S., Baur J.A., Pandita R.K.,
RA   Wright W.E., Hande M.P., Calaf G., Hei T.K., Levine F., Shay J.W.,
RA   Wang J.J.Y., Pandita T.K.;
RT   "Characterization of ataxia telangiectasia fibroblasts with extended
RT   life-span through telomerase expression.";
RL   Oncogene 20:278-288(2001).
//
RX   PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013;
RA   Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M.,
RA   Thompson L.H.;
RT   "Inter-individual variation in DNA double-strand break repair in human
RT   fibroblasts before and after exposure to low doses of ionizing
RT   radiation.";
RL   Mutat. Res. 683:91-97(2010).
//