Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

Stem Cell Res. 2018 Aug;31:147-151. doi: 10.1016/j.scr.2018.08.001. Epub 2018 Aug 2.

Abstract

The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages, as well as retinal organoids.

Publication types

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

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Eye Proteins / metabolism*
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Membrane Proteins / metabolism*
  • Middle Aged
  • Mutation
  • Nerve Tissue Proteins / metabolism*
  • Retinitis Pigmentosa / genetics*

Substances

  • CRB1 protein, human
  • Eye Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins