Longitudinal and transversal comparison of iPSC-derived ALS_C9orf72 and healthy motor neurons at DIV21 and DIV42

We performed total RNA sequencing in order to gain insights into the transcriptional differences between iPSC-derived ALS-diseased (2 patient cell lines, each harboring a C9orf72-mutation) and healthy (2 control cell lines) motor neurons at two different time points. Furthermore, we compared the transcriptomes of each genotype between the two time points to uncover alterations in neuronal maturation in ALS_C9orf72 motor neurons. Whole transcriptome analysis of control and ALS_C9orf72 motor neurons at DIV21 and DIV42

本研究通过全转录组测序（total RNA sequencing），旨在解析诱导多能干细胞（induced pluripotent stem cell, iPSC）衍生的肌萎缩侧索硬化症（Amyotrophic Lateral Sclerosis, ALS）患者运动神经元与健康对照运动神经元的转录组差异：患者组包含2株细胞系，每株均携带C9orf72基因突变；对照组包含2株细胞系，实验设置两个不同的时间节点。此外，本研究针对两种基因型的样本，比对两个时间节点间的转录组特征，以揭示携带C9orf72基因突变的ALS运动神经元在神经元成熟过程中发生的表达变化。本实验的全转录组分析对象为体外培养第21天（days in vitro 21, DIV21）与体外培养第42天（days in vitro 42, DIV42）的对照及携带C9orf72基因突变的ALS运动神经元。