Abstract：
Friedreich\'s ataxia (FRDA) is a rare neurodegenerative disease caused by an expansion of a GAA repeat sequence within the Frataxin (FXN) gene. Prominent regions of neurodegeneration include sensory neurons within the dorsal root ganglia. Here we present a set of genetically modified FRDA induced pluripotent stem cell (iPSC) lines that carry an inducible neurogenin-2 (NGN2) expression cassette. Exogenous expression of NGN2 in iPSC derived neural crest progenitors efficiently generates functionally mature sensory neurons. These cell lines will provide a streamlined source of FRDA iPSC sensory neurons for studying both disease mechanism and screening potential therapeutics.
摘要：
Friedreich共济失调（FRDA）是一种罕见的神经退行性疾病，由Frataxin（FXN）基因中GAA重复序列的扩展引起。神经变性的突出区域包括背根神经节内的感觉神经元。在这里，我们提出了一组遗传修饰的FRDA诱导的多能干细胞（iPSC）系，其携带可诱导的神经原-2（NGN2）表达盒。在iPSC衍生的神经c祖细胞中NGN2的外源表达有效地产生功能上成熟的感觉神经元。这些细胞系将提供FRDAiPSC感觉神经元的流线型来源，用于研究疾病机制和筛选潜在的治疗方法。
