从一名因FBN1基因突变导致马凡综合征的患者身上生成人诱导多能干细胞系。
Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1.
作者信息
Li Xiaowei, Dong Tao, Li Ya'nan, Wu Fujian, Lan Feng
机构信息
Beijing Laboratory for Cardiovascular Precision Medicine, The Key Laboratory of Remodeling-Related Cardiovascular Disease, Ministry of Education, Beijing Collaborative Innovation Center for Cardiovascular Disorders, Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China.
Beijing Laboratory for Cardiovascular Precision Medicine, The Key Laboratory of Remodeling-Related Cardiovascular Disease, Ministry of Education, Beijing Collaborative Innovation Center for Cardiovascular Disorders, Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China.
出版信息
Stem Cell Res. 2019 Apr;36:101414. doi: 10.1016/j.scr.2019.101414. Epub 2019 Feb 27.
Marfan syndrome (MFS) is a heritable connective tissue disease caused by mutations in FBN1, encoding the extracellular matrix protein fibrillin-1. In this study, we generated human induced pluripotent stem cells (iPSCs) from dermal fibroblasts of an MFS patient with the p. E2130K (c. 6388G > A) mutation. The generated hiPSC line had a normal karyotype, showed robust expression of pluripotency markers and was able to differentiate into all three germ layers in vivo. This cell line can provide a platform for understanding the pathogenic mechanisms of MFS related to FBN1 mutations. Resource table.
马凡综合征（MFS）是一种由编码细胞外基质蛋白原纤蛋白-1的FBN1基因突变引起的遗传性结缔组织疾病。在本研究中，我们从一名患有p.E2130K（c.6388G > A）突变的马凡综合征患者的皮肤成纤维细胞中生成了人诱导多能干细胞（iPSC）。所生成的人诱导多能干细胞系具有正常的核型，表现出多能性标志物的强劲表达，并且能够在体内分化为所有三个胚层。该细胞系可为理解与FBN1突变相关的马凡综合征的致病机制提供一个平台。资源表。
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