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Cellosaurus BRCA2-999del5-1N (CVCL_M371)

[Text version]
Cell line name BRCA2-999del5-1N
Synonyms BRCA2 cell line-999del5 mutation-patient 1 Normal tissue
Accession CVCL_M371
Resource Identification Initiative To cite this cell line use: BRCA2-999del5-1N (RRID:CVCL_M371)
Comments Population: Caucasian; Icelandic.
Transfected with: UniProtKB; P03126; Human papillomavirus type 16 protein E6.
Transfected with: UniProtKB; P03129; Human papillomavirus type 16 protein E7.
Transfected with: UniProtKB; P00552; Transposon Tn5 neo.
Transformant: NCBI_TaxID; 333760; Human papillomavirus type 16 (HPV16).
Derived from site: In situ; Breast; UBERON=UBERON_0000310.
Cell type: Epithelial cell of mammary gland; CL=CL_0002327.
Sequence variations
  • Mutation; HGNC; 1101; BRCA2; Simple; p.Asn257Lysfs*17 (c.771_775delTCAAA) (999del5); ClinVar=VCV000009326; Zygosity=Heterozygous (PubMed=16448223).
Disease BRCA2-associated hereditary breast and ovarian cancer syndrome (NCIt: C36101)
Hereditary breast and ovarian cancer syndrome (ORDO: Orphanet_145)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Adult
Category Transformed cell line
Publications

PubMed=16448223; DOI=10.1290/0505033.1
Fridriksdottir A.J.R., Gudjonsson T., Halldorsson T., Bjornsson J., Steinarsdottir M., Johannsson O.T., Ogmundsdottir H.M.
Establishment of three human breast epithelial cell lines derived from carriers of the 999del5 BRCA2 Icelandic founder mutation.
In Vitro Cell. Dev. Biol. Anim. 41:337-342(2005)

PubMed=22019625; DOI=10.1016/j.mrfmmm.2011.10.002
Bodvarsdottir S.K., Steinarsdottir M., Bjarnason H., Eyfjord J.E.
Dysfunctional telomeres in human BRCA2 mutated breast tumors and cell lines.
Mutat. Res. 729:90-99(2012)

Cross-references
Encyclopedic resources Wikidata; Q54798207
Entry history
Entry creation05-Nov-2013
Last entry update05-Oct-2023
Version number15