Stem Cell Research (Jun 2023)

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

  • Axel Chemla,
  • Giuseppe Arena,
  • Claudia Saraiva,
  • Clara Berenguer-Escuder,
  • Dajana Grossmann,
  • Anne Grünewald,
  • Christine Klein,
  • Philip Seibler,
  • Jens C. Schwamborn,
  • Rejko Krüger

Journal volume & issue
Vol. 69
p. 103085

Abstract

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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).