Rebecca S.F. Mok

This study examines the effects of MECP2 mutations on neuronal and network phenotypes in human stem cell-derived excitatory neurons, showing a spectrum of morphological, electrophysiological, and circuitry changes based on mutation severity.

The paper describes the generation of genetically annotated iPSC lines from healthy donors and demonstrates their use in creating disease-relevant cell types and identifying variant-preferred lines for control in disease modeling.