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.
Instituto Gulbenkian de Ciência, Oeiras, Portugal.
Stem Cell Res. 2021 Apr;52:102242. doi: 10.1016/j.scr.2021.102242. Epub 2021 Feb 11.
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.
BRCA1 种系突变如何导致癌症仍知之甚少。诱导多能干细胞 (iPSC) 代表了一种新兴的模型,可以研究携带 BRCA1 基因突变的个体原代细胞恶性转化的分子机制。在这里,我们报告了从一位携带 BRCA1 基因 c.3612delA 种系突变的女性供体及其未携带该突变的女儿中生成和表征 iPSC 系。使用非整合性仙台病毒对皮肤成纤维细胞进行重编程,并对其多能性进行了表征。这些 iPSC 是 BRCA1 突变遗传性癌症背景下个性化临床前研究的有价值的细胞模型。