Modeling RTT syndrome by ”in vitro” i-Neurons from male and female patients with heterogeneously severe hot-spot MECP2 variants
<|begin_of_text|><|start_header_id|>system<|end_header_id|> You are a research archivist expert in dataset metadata. Answer the question truthfully.  <|eot_id|><|start_header_id|>user<|end_header_id|> Here is the Description of a dataset. Description:'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 ph' . Please return only a json list of at most 3 Keywords corresponding to the Description:.<|eot_id|><|start_header_id|>assistant<|end_header_id|> {"Answer" : ["early morphological neuronal biomarkers","genotype-phenotype correlation","hot-spot MECP2 pathogenic variants","iPSC-neurons","mature neuron e-recordings","Rett syndrome","X inactivation mosaicism"]} <|eot_id|>
 Here is the Description of a dataset. Description:'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 ph' . Please return only a json list of at most 3 Keywords corresponding to the Description:.
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 ph
early morphological neuronal biomarkers; genotype-phenotype correlation; hot-spot MECP2 pathogenic variants; iPSC-neurons; mature neuron e-recordings; Rett syndrome; X inactivation mosaicism