Stem Cell Research (Mar 2021)

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

  • Huihui Chen,
  • Yinjuan Ding,
  • Weizhong Zhou,
  • Jiajia Li,
  • Weite Qian,
  • Zhe Zhang,
  • Chao Li,
  • Hongfei Tong,
  • Xing Rong,
  • Maoping Chu,
  • Congde Chen,
  • Dexuan Wang,
  • Xiaoling Guo

Journal volume & issue
Vol. 51
p. 102209

Abstract

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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 and can be induced to differentiate into three germ layers in vitro. The karyotype of the generated iPSCs was normal (46, XY).