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

Teresa P. Silva, Carolina A. Pereira, Ana Rita Oliveira, Ana Cláudia Raposo, Maria Arez, Joaquim M.S. Cabral, Inês Milagre, Maria Carmo-Fonseca, Simão T. da Rocha*

*Autor correspondente para este trabalho

Resultado de pesquisarevisão de pares

2 Citações (Scopus)

Resumo

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.

Idioma originalEnglish
Número do artigo102242
RevistaStem Cell Research
Volume52
DOIs
Estado da publicaçãoPublicado - abr. 2021
Publicado externamenteSim

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