KCNB1 mutation impairs neuronal differentiation by disrupting gene expression temporal regulation and neuron-specific pathways
Jianhua Feng
IntroductionThis study aims to rigorously evaluate the consistency and reliability of a pluripotent stem cell (PSC) differentiation system and explore how the KCNB1 mutation disrupts the temporal regulation of gene expression during neuronal differentiation and modulates neuron function-related pathways.MethodsInduced pluripotent stem cells (iPSCs) derived from a patient carrying a KCNB1 variant (c.990G > T, p.Glu330Asp) and from a healthy donor were differentiated into neurons. Differentiation