ID   F239hTert
AC   CVCL_VL08
DR   Wikidata; Q93548392
RX   PubMed=19409520;
RX   PubMed=21149446;
CC   Sequence variation: Mutation; HGNC; HGNC:9816; RAD50; Simple; p.Arg1093Ter (c.3277C>T); ClinVar=VCV000005872; Zygosity=Heterozygous (PubMed=19409520).
CC   Sequence variation: Mutation; HGNC; HGNC:9816; RAD50; Simple; p.Ter1313Tyrext*66 (c.3939A>T); ClinVar=VCV000005873; Zygosity=Heterozygous (PubMed=19409520).
CC   Genetic integration: Method=Transduction; Gene=HGNC; 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; C153178; Nijmegen breakage syndrome-like disorder
DI   ORDO; Orphanet_240760; Nijmegen breakage syndrome-like disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   23Y
CA   Telomerase immortalized cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 11
//
RX   PubMed=19409520; DOI=10.1016/j.ajhg.2009.04.010; PMCID=PMC2681000;
RA   Waltes R., Kalb R., Gatei M., Kijas A.W., Stumm M., Sobeck A.,
RA   Wieland B., Varon R., Lerenthal Y., Lavin M.F., Schindler D.,
RA   Dork T.;
RT   "Human RAD50 deficiency in a Nijmegen breakage syndrome-like
RT   disorder.";
RL   Am. J. Hum. Genet. 84:605-616(2009).
//
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).
//