从一名患有三阴性乳腺癌且BRCA1基因第17外显子遗传性缺失的患者身上生成诱导多能干细胞（iPSC）系。

Generation of induced pluripotent stem cell (iPSC) line from a patient with triple negative breast cancer with hereditary exon 17 deletion of BRCA1 gene.

作者信息

Griscelli Frank, Oudrhiri Noufissa, Feraud Olivier, Divers Dominique, Portier Lucie, Turhan Ali G, Bennaceur Griscelli Annelise

机构信息

ESTeam Paris Sud, INGESTEM National IPSC Infrastructure, UPSud, Université Paris-Saclay, Villejuif 94800, France; UMR-S 935, INSERM, Université Paris Sud, Villejuif 94800, France; Gustave Roussy, Department of Biopathology, Villejuif 94800, France; University Paris Descartes, Faculty Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

ESTeam Paris Sud, INGESTEM National IPSC Infrastructure, UPSud, Université Paris-Saclay, Villejuif 94800, France; UMR-S 935, INSERM, Université Paris Sud, Villejuif 94800, France; Division of Hematology, APHP-Paris Sud University hospital, Le Kremlin Bicêtre 94275, Villejuif 94800, France.

出版信息

Stem Cell Res. 2017 Oct;24:135-138. doi: 10.1016/j.scr.2017.09.003. Epub 2017 Sep 14.

DOI:10.1016/j.scr.2017.09.003

PMID:29034880

Abstract

BRCA1 germline mutation confers hereditary predisposition for breast and ovarian cancer. To understand the physiopathology of mammary and ovarian epithelial cancer transformation, and to identify early driver molecular events, we have generated an iPSC line from a patient carrying a germline exon 17 deletion in BRCA1 gene (BRAC1Ex17 iPSC) in a high-risk family context. Blood cells were reprogrammed used non-integrative virus of Sendaï. The BRCA1-deleted iPSC had normal karyotype, harboured a deletion in the exon 17 of the BRCA1 gene, expressed pluripotent hallmarks and had the differentiation capacity into the three germ layers.

摘要

BRCA1基因种系突变赋予乳腺癌和卵巢癌的遗传易感性。为了了解乳腺和卵巢上皮癌转化的生理病理学，并识别早期驱动分子事件，我们在一个高危家族背景下，从一名携带BRCA1基因种系外显子17缺失的患者（BRAC1Ex17诱导多能干细胞）中生成了一条诱导多能干细胞系。使用仙台非整合病毒对血细胞进行重编程。BRCA1缺失的诱导多能干细胞具有正常的核型，BRCA1基因外显子17存在缺失，表达多能性标志，并且具有分化为三个胚层的能力。