Generation, heterozygous repair and characterization of human iPSC lines from two individuals with KIF1A-Associated Neurological Disorder.

The kinesin-3 family number 1A (KIF1A) gene encodes a neuron-specific kinesin motor that mediates anterograde microtubule-based transport of cargoes crucial for neuronal development and synaptic function. Pathogenic variants in KIF1A disrupt cargo transport, resulting in a multisystem and rare brain condition named KIF1A-Associated Neurological Disorder (KAND). Here, we investigate two heterozygous variants [p.(Arg203Ser) and p.(Glu253Lys)] and their matched wild-type counterparts in induced pluripotent stem cell (iPSC) lines. All iPSC lines were pluripotent and showed correct genotype and differentiation potential. These KAND individual-derived iPSC models can provide a platform to investigate biological mechanisms underlying KAND and test novel therapeutics.