@article{34dd839da9924f248b086bfb8c2b74e6,
title = "Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA",
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.",
author = "Silva, {Teresa P.} and Pereira, {Carolina A.} and Oliveira, {Ana Rita} and Raposo, {Ana Cl{\'a}udia} and Maria Arez and Cabral, {Joaquim M.S.} and In{\^e}s Milagre and Maria Carmo-Fonseca and {da Rocha}, {Sim{\~a}o T.}",
note = "Funding Information: We are grateful to members of the family for their generous gift of tissue samples. We also thank Prof. Paulo Filipe and the staff of the Dermatology clinic in Hospital de Santa Maria (Centro Hospitalar Lisboa Norte, EPE) for collecting the skin biopsies, {\^A}ngela Afonso and Susana Ferreira from Biobanco-iMM for establishing the fibroblast cultures, and Pedro Ruivo for his help in histological analysis. This work was supported by Funda{\c c}{\~a}o para a Ci{\^e}ncia e Tecnologia (FCT) Minist{\'e}rio da Ci{\^e}ncia, Tecnologia e Ensino Superior (MCTES), Portugal, and FCT/FEDER/POR Lisboa 2020, Programa Operacional Regional de Lisboa, PORTUGAL 2020 [BRCA_RNA LISBOA-01-0145-FEDER-029469/PTDC/MED‐ONC/29469/2017 to M.C.-F. and PTDC/BIA‐MOL/29320/2017 to S.T.d.R.]; S.T.d.R. has a CEECUIND/01234/207 assistant research contract from FCT/MCTES; T.P.S. is supported by a FCT Project (PTDC/BTM-SAL/29298/2017) and A.C.R. has a PhD fellowship from FCT/MCTES (SFRH/BD/137099/2018). Funding Information: We are grateful to members of the family for their generous gift of tissue samples. We also thank Prof. Paulo Filipe and the staff of the Dermatology clinic in Hospital de Santa Maria (Centro Hospitalar Lisboa Norte, EPE) for collecting the skin biopsies, ?ngela Afonso and Susana Ferreira from Biobanco-iMM for establishing the fibroblast cultures, and Pedro Ruivo for his help in histological analysis. This work was supported by Funda??o para a Ci?ncia e Tecnologia (FCT) Minist?rio da Ci?ncia, Tecnologia e Ensino Superior (MCTES), Portugal, and FCT/FEDER/POR Lisboa 2020, Programa Operacional Regional de Lisboa, PORTUGAL 2020 [BRCA_RNA LISBOA-01-0145-FEDER-029469/PTDC/MED?ONC/29469/2017 to M.C.-F. and PTDC/BIA?MOL/29320/2017 to S.T.d.R.]; S.T.d.R. has a CEECUIND/01234/207 assistant research contract from FCT/MCTES; T.P.S. is supported by a FCT Project (PTDC/BTM-SAL/29298/2017) and A.C.R. has a PhD fellowship from FCT/MCTES (SFRH/BD/137099/2018). Publisher Copyright: {\textcopyright} 2021 The Author(s)",
year = "2021",
month = apr,
doi = "10.1016/j.scr.2021.102242",
language = "English",
volume = "52",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
}