Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier

Stem Cell Res. 2019 Jan;34:101357. doi: 10.1016/j.scr.2018.11.018. Epub 2018 Dec 10.

Abstract

We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p.(Ser402Ter)). A second line, LEIi009-A, was generated from a related non-penetrant carrier of the same mutation with no retinal disease. Reprogramming of patient dermal fibroblasts using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA generated cell lines displaying pluripotent stem cell marker expression, a normal karyotype and the capability to differentiate into the three germ layer lineages. Resource table.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line
  • Child
  • Child, Preschool
  • Eye Proteins / genetics*
  • Female
  • Genes, Dominant*
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Penetrance*
  • Young Adult

Substances

  • Eye Proteins
  • PRPF31 protein, human