ID   GM02052A-hTERT
AC   CVCL_VL04
SY   GM02052A-hTert
DR   Wikidata; Q93575554
RX   PubMed=12446774;
RX   PubMed=21149446;
CC   Population: Jewish; Moroccan.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Arg35Ter (c.103C>T); ClinVar=VCV000003025; Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transduction; Gene=HGNC; 11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
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_7350 ! GM02052
SX   Female
AG   15Y
CA   Telomerase immortalized cell line
DT   Created: 07-09-18; Last updated: 10-09-24; Version: 9
//
RX   PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002; PMCID=PMC139882;
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=21149446; DOI=10.1074/jbc.M110.204065; PMCID=PMC3059052;
RA   Kozlov S.V., Graham M.E., Jakob B., Tobias F., Kijas A.W., Tanuji M.,
RA   Chen P., Robinson P.J., Taucher-Scholz G., Suzuki K., So S., Chen D.,
RA   Lavin M.F.;
RT   "Autophosphorylation and ATM activation: additional sites add to the
RT   complexity.";
RL   J. Biol. Chem. 286:9107-9119(2011).
//