NEK1 Haploinsufficiency Worsens DNA Damage, but Not Defective Ciliogenesis, in C9ORF72 Patient-Derived iPSC-Motoneurons

Investigators generated iPSCs and differentiated motoneurons from an amyotrophic lateral sclerosis patient carrying both C9ORF72 hexanucleotide G4C2 repeat expansion and a NEK1 loss-of-function mutation to investigate the biological effect of NEK1 haploinsufficiency on C9ORF72 pathology in a condition of oligogenicity.