Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1

Stem Cell Res. 2023 Jun:69:103085. doi: 10.1016/j.scr.2023.103085. Epub 2023 Mar 25.

Abstract

Primary skin fibroblasts from two Parkinson's disease (PD) patients carrying distinct heterozygous mutations in the RHOT1 gene encoding Miro1, namely c.1290A > G (Miro1 p.T351A) and c.2067A > G (Miro1 p.T610A), were converted into induced pluripotent stem cells (iPSCs) by episomal reprogramming. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. Here, we provide a comprehensive characterization and quality assurance of both isogenic pairs, which will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dopaminergic Neurons / metabolism
  • Fibroblasts / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mitochondrial Proteins / genetics
  • Mutation / genetics
  • Parkinson Disease* / genetics
  • Parkinson Disease* / metabolism
  • rho GTP-Binding Proteins / metabolism

Substances

  • RHOT1 protein, human
  • rho GTP-Binding Proteins
  • Mitochondrial Proteins