ID   BRCA2-999del5-1N
AC   CVCL_M371
SY   BRCA2 cell line-999del5 mutation-patient 1 Normal tissue
DR   Wikidata; Q54798207
RX   PubMed=16448223;
RX   PubMed=22019625;
CC   Population: Caucasian; Icelandic.
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Asn257Lysfs*17 (c.771_775delTCAAA) (999del5); ClinVar=VCV000009326; Zygosity=Heterozygous (PubMed=16448223).
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03126; Human papillomavirus type 16 protein E6.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03129; Human papillomavirus type 16 protein E7.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 333760; Human papillomavirus type 16 (HPV16).
CC   Derived from site: In situ; Breast; UBERON=UBERON_0000310.
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)
SX   Female
AG   Adult
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 17
//
RX   PubMed=16448223; DOI=10.1290/0505033.1;
RA   Fridriksdottir A.J.R., Gudjonsson T., Halldorsson T.,
RA   Bjornsson J., Steinarsdottir M., Johannsson O.T., Ogmundsdottir H.M.;
RT   "Establishment of three human breast epithelial cell lines derived
RT   from carriers of the 999del5 BRCA2 Icelandic founder mutation.";
RL   In Vitro Cell. Dev. Biol. Anim. 41:337-342(2005).
//
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).
//