Generation of two CASK patient-derived human induced pluripotent stem cell lines to study CASK-related disorders.

In this study, we report generation of human induced pluripotent stem cells (hiPSCs) from two calcium/calmodulin dependent serine protein kinase (CASK)-related disorder patients with intronic mutations in the CASK gene. Reprogramming of hiPSCs was done using peripheral blood mononuclear cells (PBMCs) as a cell source and Sendai virus for delivery of reprogramming factors. Generated hiPSC lines are a valuable tool to study neurodevelopmental deficits associated with CASK mutant variants.