RNA-Seq, raw count

To address our objectives of studying the consequences of acetylation alteration during neuronal differentiation, the first phase of this work will be the generation of iPSCs-derived neurons from fibroblasts of RSTS patients carrying the same CREBBP mutation. The second phase will concern the characterization of acetylation profiles in cells from patients in comparison with control cases. This second step will allow us to characterize the proteins whose acetylation profile is specifically altered in RSTS and the associated biological pathways. In the 3rd phase of the work, we will study the functional impact of these epigenetic alterations on neuronal differentiation by analysing the transcriptome by RNA-Seq.