Stem Cell Research (Jul 2019)

Establishment of CSUASOi001-A, a non-integrated induced pluripotent stem cell line from urine-derived cells of a Chinese patient carrying RS1 gene mutation

  • Xin Yan,
  • Yonglong Guo,
  • Juan Chen,
  • Zekai Cui,
  • Jianing Gu,
  • Yini Wang,
  • Shengru Mao,
  • Chengcheng Ding,
  • Jiansu Chen,
  • Shibo Tang

Journal volume & issue
Vol. 38

Abstract

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X-linked juvenile retinoschisis (XLRS) is one of the most severely affected genetic causes of irreversible retinal degeneration diseases in young males, especially school-age boys. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese 11-year-old male with clinically diagnosed XLRS. Urine sample was collected with appropriate cooperation, then isolated cells were expanded for subsequent reprogramming procedure using integration-free Sendai virus. The newly derived CSUASOi001-A iPS cell line harboring the c.304C > T mutation in the RS1 gene (p.R102W) provides a useful resource to investigate pathogenic mechanisms in XLRS.