ID   HME348 hTERT
AC   CVCL_VG07
SY   HME348hTERT
DR   Wikidata; Q54889920
RX   PubMed=16541310;
RX   PubMed=22019625;
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Tyr2215Serfs*13 (c.6644_6647delACTC) (6872del4); ClinVar=VCV000038060; Zygosity=Heterozygous (PubMed=16541310).
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; Breast, epithelium; UBERON=UBERON_0008367.
CC   Cell type: Epithelial cell of mammary gland; CL=CL_0002327.
DI   NCIt; C36101; BRCA2-associated hereditary breast and ovarian cancer syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_VG05 ! HME348
SX   Female
AG   44Y
CA   Telomerase immortalized cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 11
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RX   PubMed=16541310; DOI=10.1007/s10549-006-9189-9;
RA   Lewis C.M., Herbert B.-S., Bu D.-W., Halloway S., Beck A., Shadeo A.,
RA   Zhang C., Ashfaq R., Shay J.W., Euhus D.M.;
RT   "Telomerase immortalization of human mammary epithelial cells derived
RT   from a BRCA2 mutation carrier.";
RL   Breast Cancer Res. Treat. 99:103-115(2006).
//
RX   PubMed=22019625; DOI=10.1016/j.mrfmmm.2011.10.002;
RA   Bodvarsdottir S.K., Steinarsdottir M., Bjarnason H., Eyfjord J.E.;
RT   "Dysfunctional telomeres in human BRCA2 mutated breast tumors and cell
RT   lines.";
RL   Mutat. Res. 729:90-99(2012).
//