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Cellosaurus BRCA2-999del5-1N (CVCL_M371)

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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.
Genetic integration: Method=Transduction; Gene=UniProtKB; P03126; Human papillomavirus type 16 protein E6.
Genetic integration: Method=Transduction; Gene=UniProtKB; P03129; Human papillomavirus type 16 protein E7.
Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Klebsiella pneumoniae 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; HGNC:1101; BRCA2; Simple; p.Asn257Lysfs*17 (c.771_775delTCAAA) (999del5); ClinVar=VCV000009326; Zygosity=Heterozygous (PubMed=16448223).
Disease BRCA2 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
Agla Jael Rubner Fridriksdottir, Thorarinn Gudjonsson, Thorhallur Halldorsson, Johannes Bjornsson, Margret Steinarsdottir, Oskar Thor Johannsson, Helga Margret Ogmundsdottir;
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
Sigridur Klara Bodvarsdottir, Margret Steinarsdottir, Hordur Bjarnason, Jorunn Erla Eyfjord;
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 update14-Aug-2025
Version number19