Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa

Stem Cell Res. 2022 Apr:60:102738. doi: 10.1016/j.scr.2022.102738. Epub 2022 Feb 28.

Abstract

We report here the generation of the human iPSC line INMi005-A from a patient with non-syndromic autosomal recessive retinitis pigmentosa caused by compound heterozygous mutations in the USH2A gene. The reprogramming of primary human dermal fibroblasts was performed using the non-integrative Sendai virus method and the OSKM transcription factor cocktail. The generated INMi005-A iPSC line is pluripotent and genetically stable, and will represent a valuable tool for understanding the pathophysiology associated with USH2A mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Extracellular Matrix Proteins / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation / genetics
  • Retinitis Pigmentosa* / genetics
  • Usher Syndromes* / genetics

Substances

  • Extracellular Matrix Proteins
  • USH2A protein, human

Supplementary concepts

  • Usher syndrome, type 2A