Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene

Stem Cell Res. 2019 Jul:38:101468. doi: 10.1016/j.scr.2019.101468. Epub 2019 May 22.

Abstract

Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the synthesis of rhodopsin. The reprogramming of these iPSCs was performed from skin fibroblasts by the Sendai-virus based approach. Characterization of the iPSC line showed a normal karyotype carrying the RHO mutation, expressed pluripotency markers and could be differentiated to endoderm, mesoderm and ectoderm in vitro.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cell Line
  • Cellular Reprogramming Techniques
  • Female
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Genes, Dominant*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Induced Pluripotent Stem Cells* / pathology
  • Point Mutation*
  • Retinitis Pigmentosa* / genetics
  • Retinitis Pigmentosa* / metabolism
  • Retinitis Pigmentosa* / pathology
  • Sensory Rhodopsins* / genetics
  • Sensory Rhodopsins* / metabolism
  • Skin / metabolism
  • Skin / pathology

Substances

  • Sensory Rhodopsins