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, Dajana Grossmann, Anne Grünewald, Christine Klein, Philip Seibler, Jens Christian Schwamborn, Rejko Krüger
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).