Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation

Stem Cell Res. 2018 Dec;33:251-254. doi: 10.1016/j.scr.2018.11.002. Epub 2018 Nov 16.

Abstract

Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a heterozygous double mutation in EYS gene was generated by non-integrative reprogramming technology, using hOCT3/4, hSOX2, hc-MYC and hKLF4 reprogramming factors. Pluripotency and differentiation capacity were assessed by immunocytochemistry and RT-PCR. This iPSC line can be further differentiated towards the affected cells to understand the pathophysiology of the disease and test new therapeutic strategies.

Publication types

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

MeSH terms

  • Adult
  • Eye Proteins / genetics*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Male
  • Mutation
  • Retinitis Pigmentosa / genetics*

Substances

  • EYS protein, human
  • Eye Proteins