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#

Authors#

Axel Chemla, Giuseppe Arena, Claudia Saraiva, Clara Berenguer, Dajana Grossmann, Anne Grünewald, Christine Klein, Philip Seibler, Jens Christian Schwamborn, Rejko Krüger

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).