诱导多能干细胞的产生和鉴定，这些细胞杂合有葡萄牙 BRCA2 种系突变。
Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation.
机构信息
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.
Instituto Gulbenkian de Ciência, Oeiras, Portugal.
出版信息
Stem Cell Res. 2021 May;53:102364. doi: 10.1016/j.scr.2021.102364. Epub 2021 Apr 23.
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.
携带有 BRCA2 基因突变的女性，其患癌风险会增加，主要是乳腺癌和卵巢癌。一种特殊的 BRCA2 突变（c.156_157insAlu）仅存在于葡萄牙裔家族中，约占所有遗传性乳腺癌和卵巢癌的葡萄牙家族的 30%。我们报告了首例携带有葡萄牙 BRCA2 突变的女性诱导多能干细胞系的建立和鉴定。皮肤成纤维细胞使用非整合性的仙台病毒进行重编程。这些 iPS 细胞是研究 BRCA2 相关癌症早期起源的宝贵工具。
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