Modeling RTT syndrome by ”in vitro” i-Neurons from male and female patients with heterogeneously severe hot-spot MECP2 variants

This dataset contains the data for the paper Perego et al., \"Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants\". In this paper, iPSC-neurons were generated from blood of Rett Syndrome (RTT) girls with the most frequent variants (p.Arg133Cys and p.Arg255*), respectively associated to mild and severe phenotype, and of an RTT male with the p.Gly252Argfs*7 variant. Morphological parameters and electrophysiological recording were evaluated at different time-point of neuron maturation, showing a precocious reduced nuclear size and branch number. Patch clamp recording on mature neurons lights up an immature spiking pattern, an altered cell capacitance, and a membrane resistance of RTT neurons. The overall results indicate that specific markers of in vitro cellular phenotype mirror the clinical severity and may be amenable to drug testing for translational purposes.