Anna Huber, Victoria Sarne, Alexander V Beribisky, Daniela Ackerbauer, Sophia Derdak, Silvia Madritsch, Julia Etzler, Sigismund Huck, Petra Scholze, Ilayda Gorgulu, John Christodoulou, Christian R Studenik, Winfried Neuhaus, Bronwen Connor, Franco Laccone, Hannes Steinkellner
Rett Syndrome (RTT) is a severe neurodevelopmental disorder, afflicting 1 in 10,000 female births. It is caused by mutations in the X-linked MECP2 gene, which encodes for the global transcriptional regulator MeCP2. As human brain samples of RTT patients are scarce and cannot be used for downstream studies, there is a pressing need for in vitro modeling of pathological neuronal changes. Here, we employ a direct reprogramming method for the generation of neuronal cells from MeCP2-deficient and wildtype human dermal fibroblasts using two episomal plasmids encoding the transcription factors SOX2 and PAX6...
January 2, 2024: Stem Cells and Development