Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China.
Stem Cell Res. 2021 Oct;56:102557. doi: 10.1016/j.scr.2021.102557. Epub 2021 Sep 30.
Alport syndrome is the second most common genetic renal disease which caused by mutations in COL4A3/COL4A4/COL4A5, according to different modes of inheritance. Recently, we identified a novel homozygous mutation in COL4A3 gene in a patient with Alport syndrome. The Peripheral Blood Mononuclear Cells (PBMCs) of the patient were obtained and a line of induced pluripotent stem cells (iPSCs) was successfully generated. The iPSC line will be useful for further study of the pathogenesis and drug screening for Alport syndrome.
Alport 综合征是第二大常见的遗传性肾脏疾病，由 COL4A3/COL4A4/COL4A5 基因突变引起，根据不同的遗传方式。最近，我们在一名 Alport 综合征患者中鉴定出 COL4A3 基因的一种新型纯合突变。从患者外周血单核细胞（PBMCs）中获得一条诱导多能干细胞（iPSC），并成功生成。该 iPSC 系将有助于进一步研究 Alport 综合征的发病机制和药物筛选。
