ID   TAT2SF
AC   CVCL_F611
SY   GM09607; GM9607
DR   CLO; CLO_0026603
DR   Coriell; GM09607
DR   Wikidata; Q54843879
RX   CelloPub=CLPUB00447;
RX   PubMed=2903889;
RX   PubMed=2987007;
RX   PubMed=9357546;
RX   PubMed=11172010;
RX   PubMed=24142626;
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Phe1774Lysfs*17 (c.5320_5326del) (c.5320del7); Zygosity=Heterozygous (Coriell=GM09607).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Trp2769Ter (c.8307G>A); ClinVar=VCV000189104; Zygosity=Heterozygous (Coriell=GM09607).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) [Note=pSVori-].
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)
HI   CVCL_V575 ! AT2SF
SX   Female
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 22
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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   PubMed=2903889; DOI=10.1080/09553008814552321;
RA   Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.V.;
RT   "Comparative human cellular radiosensitivity: I. The effect of SV40
RT   transformation and immortalisation on the gamma-irradiation survival
RT   of skin derived fibroblasts from normal individuals and from
RT   ataxia-telangiectasia patients and heterozygotes.";
RL   Int. J. Radiat. Biol. 54:911-928(1988).
//
RX   PubMed=2987007; DOI=10.1016/0014-4827(85)90437-9;
RA   Murnane J.P., Fuller L.F., Painter R.B.;
RT   "Establishment and characterization of a permanent pSV ori-transformed
RT   ataxia-telangiectasia cell line.";
RL   Exp. Cell Res. 158:119-126(1985).
//
RX   PubMed=9357546; DOI=10.1016/s0027-5107(97)00119-x;
RA   Sprung C.N., Bryan T.M., Reddel R.R., Murnane J.P.;
RT   "Normal telomere maintenance in immortal ataxia telangiectasia cell
RT   lines.";
RL   Mutat. Res. 379:177-184(1997).
//
RX   PubMed=11172010; DOI=10.1073/pnas.041416598;
RA   Peretz S., Jensen R., Baserga R., Glazer P.M.;
RT   "ATM-dependent expression of the insulin-like growth factor-I receptor
RT   in a pathway regulating radiation response.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:1676-1681(2001).
//
RX   PubMed=24142626; DOI=10.1002/gcc.22115;
RA   Parikh R.A., Appleman L.J., Bauman J.E., Sankunny M., Lewis D.W.,
RA   Vlad A., Gollin S.M.;
RT   "Upregulation of the ATR-CHEK1 pathway in oral squamous cell
RT   carcinomas.";
RL   Genes Chromosomes Cancer 53:25-37(2014).
//