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

Stem Cell Res. 2020 Dec:49:102041. doi: 10.1016/j.scr.2020.102041. Epub 2020 Oct 12.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Mutation
  • Point Mutation
  • RNA-Binding Proteins / genetics
  • Retinitis Pigmentosa* / genetics

Substances

  • PRPF8 protein, human
  • RNA-Binding Proteins