Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center, Shreveport, LA 71130-3932, USA; Department of Biology, University of Louisiana at Lafayette, Lafayette LA 70503, USA.
Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center, Shreveport, LA 71130-3932, USA.
Stem Cell Res. 2022 Jul;62:102807. doi: 10.1016/j.scr.2022.102807. Epub 2022 May 5.
Childhood-onset torsin dystonia (DYT1) is a rare hereditary movement disorder and usually caused by a heterozygous GAG deletion (c.907-909) in the TOR1A gene (ΔE, p.Glu303del). The neuronal functions of torsin proteins and the pathogenesis of ΔE mutation are not clear. Previously, we have generated a hiPSC line from DYT1 patient fibroblast cells. In this study, we genetically corrected GAG deletion and obtained two isogenic control lines. These hiPSC lines contain the wild-type TOR1A sequence, showed the normal stem cell morphology and karyotype, expressed pluripotency markers, and differentiated into three germ layers, providing a valuable resource in DYT1 research.
儿童期起病的扭转痉挛（DYT1）是一种罕见的遗传性运动障碍，通常由 TOR1A 基因中的 GAG 缺失（c.907-909）引起（ΔE，p.Glu303del）。扭体蛋白的神经元功能和 ΔE 突变的发病机制尚不清楚。以前，我们已经从 DYT1 患者成纤维细胞中生成了 hiPSC 系。在这项研究中，我们对 GAG 缺失进行了基因校正，并获得了两个同基因对照系。这些 hiPSC 系含有野生型 TOR1A 序列，表现出正常的干细胞形态和核型，表达多能性标记物，并分化为三个胚层，为 DYT1 研究提供了有价值的资源。
