Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations

Stem Cell Res. 2019 Mar:35:101385. doi: 10.1016/j.scr.2019.101385. Epub 2019 Jan 17.

Abstract

Retinitis pigmentosa (RP) refers to a clinical and genetic heterogeneous group of inherited retinal degenerations characterized by photoreceptor cell death. In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (PDE6A) gene. Skin fibroblasts were generated and reprogrammed by using a Sendai virus-based approach. The iPSC line had a normal karyotype, carried the two PDE6A mutations, expressed pluripotency markers and could generate endoderm, mesoderm and ectoderm in vitro. Resource table.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line*
  • Cyclic Nucleotide Phosphodiesterases, Type 6* / genetics
  • Cyclic Nucleotide Phosphodiesterases, Type 6* / metabolism
  • Eye Proteins* / genetics
  • Eye Proteins* / metabolism
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Heterozygote*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Induced Pluripotent Stem Cells* / pathology
  • Male
  • Middle Aged
  • Mutation*
  • Retinitis Pigmentosa* / genetics
  • Retinitis Pigmentosa* / metabolism
  • Retinitis Pigmentosa* / pathology
  • Skin / metabolism
  • Skin / pathology

Substances

  • Eye Proteins
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • PDE6A protein, human