Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA


How BRCA1 germline mutations predispose to cancer remains poorly understood. Induced pluripotent stem cells (iPSCs) represent an emerging model to investigate the molecular mechanisms underlying malignant transformation in primary cells from individuals who are carriers of deleterious mutations in the BRCA1 gene. Here we report the generation and characterization of iPSC lines from a female donor harboring a germline c.3612delA mutation in the BRCA1 gene and her daughter who does not carry the mutation. Skin fibroblasts were reprogrammed using non-integrative Sendai virus and characterized for their pluripotent properties. These iPSCs are a valuable cellular model for personalized pre-clinical research in the context of BRCA1 mutant hereditary cancers. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Silva TP, Pereira CA, Oliveira AR, Raposo AC, Arez M, Cabral JMS, Milagre I, Carmo-Fonseca M, da Rocha ST
Journal Stem cell research
Publication Date 2021 Apr;52:102242
PubMed 33631522
DOI 10.1016/j.scr.2021.102242

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