ID   GM05823+hTERT
AC   CVCL_VL10
SY   GM05823-hTert; hTERT+ GM05823
DR   Wikidata; Q93789883
RX   PubMed=11313956;
RX   PubMed=21149446;
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Leu2427_Arg2428del (c.7278_7283delCCTTAG); ClinVar=VCV000003020; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; 11730; TERT.
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_7441 ! AT5BI
SX   Male
AG   18Y
CA   Telomerase immortalized cell line
DT   Created: 07-09-18; Last updated: 10-09-24; Version: 10
//
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=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).
//