Stem Cell Research (Dec 2020)

Establishment of non-integrate induced pluripotent stem cell line CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant retinitis pigmentosa patient

  • Yalan Zhou,
  • Zekai Cui,
  • Yutong Jing,
  • Shengru Mao,
  • Donglong Chen,
  • Chengcheng Ding,
  • Jianing Gu,
  • Hon fai Chan,
  • Shibo Tang,
  • Jiansu Chen

Journal volume & issue
Vol. 49
p. 102041

Abstract

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Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by the progressive photoreceptors and pigment epithelial cells dysfunction. Here, we report the human induced pluripotent stem cell line (iPSC) CSUASOi006-A, generated from urine-derived cells (UCs) of a 17-year-old male patient with clinically diagnosed RP carrying point mutation (c.C5792T) in the pre-mRNA processing factor 8 gene (PRPF8). The newly derived CSUASOi006-A cell line has the patient’s same mutation (c.C5792T) and could provide useful resources for studying the pathogenic mechanism of PRPF8-related RP.