@article{09ad809abb1440b9ab10576d491c7561,
title = "Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation",
abstract = "Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156\_157insAlu) is exclusively found in families of Portuguese ancestry and is present in approximately 30\% of all Portuguese families with hereditary breast and ovarian cancers. We report the generation and characterization of the first iPSC line from a female donor harboring the Portuguese BRCA2 founder mutation. Skin fibroblasts were reprogrammed using a non-integrative Sendai virus. These iPSCs are a valuable tool to study the origin of BRCA2-associated cancer in its earliest phases.",
author = "Silva, \{Teresa P.\} and Pereira, \{Carolina A.\} and Raposo, \{Ana Cl{\'a}udia\} and Oliveira, \{Ana Rita\} and Maria Arez and Cabral, \{Joaquim M.S.\} and In{\^e}s Milagre and Maria Carmo-Fonseca and Rocha, \{Sim{\~a}o Teixeira da\}",
note = "Funding Information: We are grateful to the anonymous donor for the generous gift of tissue sample and to the Portuguese hereditary cancer support group Evita (https://www.evitacancro.org/). 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 the anonymous donor for the generous gift of tissue sample and to the Portuguese hereditary cancer support group Evita (https://www.evitacancro.org/). 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). Publisher Copyright: {\textcopyright} 2021",
year = "2021",
month = may,
doi = "10.1016/j.scr.2021.102364",
language = "English",
volume = "53",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier B.V.",
}
SDG 3 Good Health and Well-being