Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200

Stem Cell Res. 2021 Mar;51:102154. doi: 10.1016/j.scr.2020.102154. Epub 2021 Jan 5.

Abstract

The human induced pluripotent stem cell (iPSC) lines LEIi015-A and LEIi015-B were derived from a patient with inherited retinal disease caused by compound heterozygous mutations in the SNRNP200 gene (c.[1792C>T];[3341T>C]). Dermal fibroblasts were transfected with episomal plasmids carrying transgenes encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi015-A and LEIi015-B expressed iPSC markers, were free from genomic alterations and demonstrated trilineage differentiation potential.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Fibroblasts
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Mutation
  • Retinal Diseases*
  • Ribonucleoproteins, Small Nuclear

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Ribonucleoproteins, Small Nuclear
  • SNRNP200 protein, human