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


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

Authors Silva TP, Pereira CA, Raposo AC, Oliveira AR, Arez M, Cabral JMS, Milagre I, Carmo-Fonseca M, Rocha STD
Journal Stem cell research
Publication Date 2021 May;53:102364
PubMed 34087993
DOI 10.1016/j.scr.2021.102364

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