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

doi:10.1016/j.scr.2021.102242

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Article number	102242
Journal	Stem Cell Research
Volume	52
DOIs	https://doi.org/10.1016/j.scr.2021.102242
Publication status	Published - Apr 2021
Externally published	Yes

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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 = "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",

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T1 - Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA

AU - Silva, Teresa P.

AU - Pereira, Carolina A.

AU - Oliveira, Ana Rita

AU - Raposo, Ana Cláudia

AU - Arez, Maria

AU - Cabral, Joaquim M.S.

AU - Milagre, Inês

AU - Carmo-Fonseca, Maria

AU - da Rocha, Simão T.

PY - 2021/4

Y1 - 2021/4

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85101126394

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DO - 10.1016/j.scr.2021.102242

M3 - Article

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AN - SCOPUS:85101126394

SN - 1873-5061

VL - 52

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102242

ER -

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

Abstract

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