Cerebellar ataxias are clinically and genetically heterogeneous diseases affecting primary cerebellar cells. The lack of availability of affected tissue from cerebellar ataxias patients is the main obstacle in investigating the pathogenicity of these diseases. The landmark discovery of human-induced pluripotent stem cells (hiPSC) has permitted the derivation of patient-specific cells with an unlimited self-renewing capacity. Additionally, their potential to differentiate into virtually any cell type of the human organism allows for large amounts of affected cells to be generated in culture, converting this hiPSC technology into a revolutionary tool in the study of the mechanisms of disease, drug discovery, and gene correction. In this review, we will summarize the current studies in which hiPSC were utilized to study cerebellar ataxias. Describing the currently available 2D and 3D hiPSC-based cellular models, and due to the fact that extracerebellar cells were used to model these diseases, we will discuss whether or not they represent a faithful cellular model and whether they have contributed to a better understanding of disease mechanisms.

中文翻译：

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罕见遗传性小脑共济失调的hiPSC疾病建模：机遇与未来挑战。

小脑共济失调是影响原发性小脑细胞的临床和遗传异质性疾病。小脑性共济失调患者受影响组织的缺乏是调查这些疾病的致病性的主要障碍。人类诱导性多能干细胞（hiPSC）的划时代发现，使得具有无限自我更新能力的患者特异性细胞的衍生成为可能。此外，它们具有分化为几乎任何人类细胞类型的潜能，可在培养物中产生大量受影响的细胞，从而将这种hiPSC技术转化为研究疾病，药物发现和基因机制的革命性工具。更正。在这篇综述中，我们将总结使用hiPSC研究小脑共济失调的最​​新研究。