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

从携带RHOT1基因(编码Miro1)杂合突变c.1290A>G (p.T351A)或c.2067A>G (p.T610A)的帕金森病患者中,生成了两种诱导多能干细胞系及其相应的同源对照细胞系。

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作者:Axel Chemla,Giuseppe Arena,Claudia Saraiva,Clara Berenguer-Escuder,Dajana Grossmann,Anne Grünewald,Christine Klein,Philip Seibler,Jens C 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).

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