Article
Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene.
Stem cell research - 1 Mar 2021
Chen Huihui, Ding Yinjuan, Zhou Weizhong, Li Jiajia, Qian Weite, Zhang Zhe, Li Chao, Tong Hongfei, Rong Xing, Chu Maoping, Chen Congde, Wang Dexuan, Guo Xiaoling
Abstract excerpt
The gene mutations of the chloride channel gene (CLCN5) can lead to the inherited X-linked Dent disease (X-Dent). The urine cells of a 4-year-old male X-Dent patient with the hemizygous CLCN5 gene mutation p.R718* (c.2152C > T) were reprogrammed into induced pluripotent stem cells (iPSCs) using integration free Sendai virus reprogramming system. The generated iPSCs stably expressed pluripotent stem cell markers...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.