Key Laboratory of Experimental Teratology, Ministry of Education, Institute of Molecular Medicine and Genetics, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
Department of Nephrology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
Stem Cell Res. 2021 Apr;52:102237. doi: 10.1016/j.scr.2021.102237. Epub 2021 Feb 11.
Alport syndrome (AS) is a hereditary kidney disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes. Here we report the generation of an induced pluripotent stem cell line (iPSC) from an AS patient carrying compound heterozygote mutations (c.4243G > C and c.4216G > A) in COL4A3 gene using non-integrative reprogramming technology. The established iPSC line demonstrates hESC morphology, expresses pluripotency markers, has normal karyotype, and is capable of differentiating into all three germ layers in vitro.
Alport 综合征（AS）是一种遗传性肾脏疾病，由 COL4A3、COL4A4 或 COL4A5 基因突变引起。在这里，我们报告了使用非整合重编程技术从一位携带 COL4A3 基因突变（c.4243G>C 和 c.4216G>A）的 AS 患者中产生诱导多能干细胞系（iPSC）。所建立的 iPSC 系表现出 hESC 形态，表达多能性标记物，具有正常核型，并能够在体外分化为三个胚层。
