Guo Xiaoling, Ji Weiping, Niu Chao, Ding Yinjuan, Chen Zhanguo, Chen Congde, Tong Hongfei, Han Zhao, Chu Maoping
Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Institute of Cardiovascular Development and Translational Medicine, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Department of General Surgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Stem Cell Res. 2020 Dec;49:102085. doi: 10.1016/j.scr.2020.102085. Epub 2020 Nov 8.
The gene mutations of the collagen type IV alpha 5 chain (COL4A5) can lead to the inherited haematuria to end-stage renal disease X-linked Alport syndrome (X-LAS). The urine cells of a 5-year-old male X-LAS patient carrying a hemizygous COL4A5 gene mutation p.G1433V (c.4298G>T) were reprogrammed to induced pluripotent stem cells (iPSCs) with Sendai virus reprogramming kit containing OCT4, SOX2, c-MYC, and KLF4 Yamanaka factors. The generated iPSC line WMUi015-A stably expressed pluripotent markers, maintained a normal karyotype (46, XY), and had differentiation potential into three germ layers in vitro.
IV型胶原α5链（COL4A5）基因突变可导致遗传性血尿至终末期肾病的X连锁Alport综合征（X-LAS）。一名携带半合子COL4A5基因突变p.G1433V（c.4298G>T）的5岁男性X-LAS患者的尿液细胞，用含有OCT4、SOX2、c-MYC和KLF4山中因子的仙台病毒重编程试剂盒重编程为诱导多能干细胞（iPSC）。所产生的iPSC系WMUi015-A稳定表达多能性标志物，保持正常核型（46, XY），并在体外具有分化为三个胚层的潜能。
