He Shan, Jin Ye, Tian Zhuang, Hua TianRui, Xing HaiPing, Zhuang ShengSheng, He XinYue, Li HanYu, Wang Lun, Zhang ShuYang
Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, China.
Clinical Research Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, China.
Stem Cell Res. 2020 Dec;49:102022. doi: 10.1016/j.scr.2020.102022. Epub 2020 Oct 2.
Hereditary transthyretin amyloid cardiomyopathy is cardiac involvement in systemic transthyretin amyloidosis. For the first time, we generated induced pluripotent stem cell (iPSC) line of hATTR-CM carrying the TTR mutation p.Asp38Asn. We isolated peripheral blood mononuclear cells from the patient's peripheral blood. The reprogramming of PBMCs achieved a pluripotent state by the transfection of non-integrated episomal vectors. We demonstrated pluripotency with the presence of cell surface markers, the expression of pluripotency-related genes and the ability to form teratoma composed of three germ layers in vivo. This iPSC line is a useful model for studying the pathogenic mechanism of TTR p.Asp38Asn mutation.
遗传性转甲状腺素蛋白淀粉样心肌病是系统性转甲状腺素蛋白淀粉样变性的心脏受累表现。我们首次生成了携带TTR突变p.Asp38Asn的遗传性转甲状腺素蛋白淀粉样心肌病（hATTR-CM）的诱导多能干细胞（iPSC）系。我们从患者外周血中分离出外周血单个核细胞。通过转染非整合型附加体载体，外周血单个核细胞重编程达到多能状态。我们通过细胞表面标志物的存在、多能性相关基因的表达以及在体内形成由三个胚层组成的畸胎瘤的能力来证明多能性。该iPSC系是研究TTR p.Asp38Asn突变致病机制的有用模型。
