Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene

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 (delta E, p.Glu303del). The neuronal functions of torsin proteins and the pathogenesis of delta E 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.

Automated summary

Childhood-onset torsin dystonia (DYT1) is a rare hereditary movement disorder caused by GAG deletion in the TOR1A gene. This study generated isogenic control lines using hiPSC technology, providing a valuable resource for DYT1 research.