TY - JOUR
T1 - Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation
AU - Silva, Teresa P.
AU - Pereira, Carolina A.
AU - Raposo, Ana Cláudia
AU - Oliveira, Ana Rita
AU - Arez, Maria
AU - Cabral, Joaquim M.S.
AU - Milagre, Inês
AU - Carmo-Fonseca, Maria
AU - Rocha, Simão Teixeira da
N1 - 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, Ângela 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 Fundação para a Ciência e Tecnologia (FCT) Ministério da Ciência, 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, Ângela 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 Fundação para a Ciência e Tecnologia (FCT) Ministério da Ciência, 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:
© 2021
PY - 2021/5
Y1 - 2021/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85105836698&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2021.102364
DO - 10.1016/j.scr.2021.102364
M3 - Article
C2 - 34087993
AN - SCOPUS:85105836698
VL - 53
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 102364
ER -
