Genomic Characterization of Induced Pluripotent Stem Cells from PBMCs in Brain Development Disorders

This work is being done as a collaboration between the laboratories of Alex Paciorkowski in the Center for Neurotherapeutic Discovery/Neurology and Christoph Pröschel in Biomedical Genetics. The overall goal of this project is to develop induced pluripotent stem cells (iPSCs) from human research subject peripheral blood mononuclear cells (PBMCs) in order to ultimately derive neurons from the iPSCs. Future work will involve transforming human subject iPSCs into neuronal cell lines for the purposes of studying the effect of epilepsy causing mutations on neuronal morphology, development, and behavior. The genomic integrity of iPSCs after reprogramming must then be confirmed using chromosomal microarray and karyotype.

« back to all projects