Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Stem Cell Res. 2024 Jun;77:103382. doi: 10.1016/j.scr.2024.103382. Epub 2024 Mar 11.
Friedreich's ataxia is a spinocerebellar degenerative disease caused by microsatellite (GAA.TTC)n repeat expansion in the first intron of FXN gene. Here, we developed iPSC lines from an FRDA patient (IGIBi016-A) and non-FRDA healthy control (IGIBi017-A). Both iPSC lines displayed typical iPSC morphology, expression of pluripotency markers, regular karyotypes (46, XY; 46, XX), capacity to grow into three germ layers, and FRDA hallmark -GAA repeat expansion and decreased FXN mRNA. Through these iPSC lines, FRDA phenotypes may be replicated in the in vitro assays, by creating neuron subtypes, cardiomyocytes and 3D organoids, for molecular and cellular biomarkers and therapeutic applications.
弗里德里希共济失调是一种脊髓小脑退行性疾病，由 FXN 基因第一内含子中微卫星（GAA.TTC）n 重复扩展引起。在这里，我们从 FRDA 患者（IGIBi016-A）和非 FRDA 健康对照（IGIBi017-A）中开发了 iPSC 系。这两个 iPSC 系均显示出典型的 iPSC 形态、多能性标志物的表达、正常的核型（46，XY；46，XX）、向三个胚层生长的能力，以及 FRDA 特征 -GAA 重复扩展和 FXN mRNA 减少。通过这些 iPSC 系，可以通过创建神经元亚型、心肌细胞和 3D 类器官，用于分子和细胞生物标志物和治疗应用，在体外试验中复制 FRDA 表型。
