Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

Stem Cell Res. 2019 May;37:101452. doi: 10.1016/j.scr.2019.101452. Epub 2019 Apr 25.

Abstract

We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cell Differentiation*
  • Cells, Cultured
  • Cellular Reprogramming*
  • Female
  • Fibroblasts / metabolism
  • Fibroblasts / pathology*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Kruppel-Like Factor 4
  • Microtubule-Associated Proteins / genetics*
  • Mutation*
  • Phenotype
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Microtubule-Associated Proteins
  • RP1 protein, human