The third publication of the NeuroD group of 2026 is out now. The paper was published in Stem Cell Research and was a true team effort of the NeuroD group (Laurie, Barry, Linda, Bas, Ronald, and Willeke). In this research article, we describe the generation of an isogenic human induced pluripotent stem cell line for SCA1.
Spinocerebellar Ataxia Type 1 (SCA1) is an inherited brain disorder caused by a CAG repeat expansion in the coding sequence of the ATXN1 gene. In this study, we generated an isogenic human induced pluripotent stem (hiPS) cell line for SCA1. Using CRISPR/Cas9 and a donor template, 54 CAG repeats were inserted in the ATXN1 gene thereby obtaining a SCA1 hiPS cell line. Quality control showed successful insertion of the expanded CAG repeat without any off-target effects. Furthermore, SCA1 hiPS cells could be differentiated into all three germ layers, including neuronal cultures. This isogenic hiPS cell pair can therefore be used for disease modeling and is a valuable tool to investigate the effect of the SCA1 causing mutation without the influence of genetic background differences.
Per tradition, the publication was celebrated with cake.
