Literature DB >> 33631522

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

Teresa P Silva1, Carolina A Pereira2, Ana Rita Oliveira3, Ana Cláudia Raposo1, Maria Arez1, Joaquim M S Cabral4, Inês Milagre2, Maria Carmo-Fonseca3, Simão T da Rocha5.   

Abstract

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.

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Year:  2021        PMID: 33631522     DOI: 10.1016/j.scr.2021.102242

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  2 in total

1.  Human iPSC-derived fallopian tube organoids with BRCA1 mutation recapitulate early-stage carcinogenesis.

Authors:  Nur Yucer; Rodney Ahdoot; Michael J Workman; Alexander H Laperle; Maria S Recouvreux; Kathleen Kurowski; Diana J Naboulsi; Victoria Liang; Ying Qu; Jasmine T Plummer; Simon A Gayther; Sandra Orsulic; Beth Y Karlan; Clive N Svendsen
Journal:  Cell Rep       Date:  2021-12-28       Impact factor: 9.423

2.  Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Authors:  Meryem Ozgencil; Julian Barwell; Marc Tischkowitz; Louise Izatt; Ian Kesterton; Michael Simpson; Paul Sharpe; Paulo de Sepulveda; Edwige Voisset; Ellen Solomon
Journal:  PLoS One       Date:  2021-12-02       Impact factor: 3.240

  2 in total

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