Transcriptomic Profiling of iPSC-Derived Motoneurons Harboring NEK1 Mutations (R812 and N598S) and Wild-Type Controls
Mutations in NEK1 are associated with amyotrophic lateral sclerosis (ALS), but their effects on motoneuron biology are not well defined. To address this, we performed RNA sequencing on induced pluripotent stem cell (iPSC)-derived motoneurons carrying NEK1 R812* (nonsense) and N598S (missense) variants alongside isogenic wild-type controls. Transcriptomic analysis revealed distinct expression changes between the variants. These findings highlight both shared and mutation-specific impacts of NEK1 variants on motoneuron transcriptomes and provide a resource for studying ALS mechanisms.