从一名患有马凡综合征的患者身上重编程建立人诱导多能干细胞系，该患者的原纤维蛋白1（FBN1）基因存在杂合突变c.2939G＞A 。
Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene.
作者信息
Qin Zhiping, Sun Liqiang, Sun Xue, Gao Xinxuan, Su Hang
机构信息
Department of Doppler Ultrasonic, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Department of Cardiology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
出版信息
Stem Cell Res. 2021 Mar;51:102163. doi: 10.1016/j.scr.2021.102163. Epub 2021 Jan 8.
Marfan syndrome (MFS) is a connective-tissue disorder caused mainly by heterozygous mutations in the FBN1 gene that encodes fibrillin-1. In this study, human induced pluripotent stem cell (iPSC) line ZZUSAHi003-A was generated from peripheral blood mononuclear cells (PBMCs) isolated from a female patient with MFS using non-integrative Sendai virus. The iPSC line carried the FBN1 gene mutation, showed the normal karyotype, expressed pluripotency markers and had the capacity to differentiate into three germ layers in vivo. This iPS line, ZZUSAHi003-A, could serve as a useful tool for studying pathogenic mechanisms of MFS.
马凡综合征（MFS）是一种主要由编码原纤蛋白-1的FBN1基因杂合突变引起的结缔组织疾病。在本研究中，使用非整合型仙台病毒从一名患有马凡综合征的女性患者分离出的外周血单个核细胞（PBMC）中生成了人诱导多能干细胞（iPSC）系ZZUSAHi003-A。该iPSC系携带FBN1基因突变，具有正常核型，表达多能性标志物，并具有在体内分化为三个胚层的能力。这个iPSC系ZZUSAHi003-A可作为研究马凡综合征致病机制的有用工具。
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