Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation.


Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
05 2021
Historique:
received: 18 02 2021
revised: 05 04 2021
accepted: 18 04 2021
entrez: 5 6 2021
pubmed: 6 6 2021
medline: 1 7 2021
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 34087993
pii: S1873-5061(21)00210-5
doi: 10.1016/j.scr.2021.102364
pii:
doi:

Substances chimiques

BRCA2 Protein 0
BRCA2 protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

102364

Informations de copyright

Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Auteurs

Teresa P Silva (TP)

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal; Departamento de Bioengenharia e Instituto de Bioengenharia e Biociências, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB - Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal.

Carolina A Pereira (CA)

Instituto Gulbenkian de Ciência, Oeiras, Portugal.

Ana Cláudia Raposo (AC)

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal; Departamento de Bioengenharia e Instituto de Bioengenharia e Biociências, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB - Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal.

Ana Rita Oliveira (AR)

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal.

Maria Arez (M)

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal; Departamento de Bioengenharia e Instituto de Bioengenharia e Biociências, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB - Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal.

Joaquim M S Cabral (JMS)

Departamento de Bioengenharia e Instituto de Bioengenharia e Biociências, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB - Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal.

Inês Milagre (I)

Instituto Gulbenkian de Ciência, Oeiras, Portugal.

Maria Carmo-Fonseca (M)

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal.

Simão Teixeira da Rocha (STD)

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal; Departamento de Bioengenharia e Instituto de Bioengenharia e Biociências, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB - Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal. Electronic address: simao.rocha@tecnico.ulisboa.pt.

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Classifications MeSH