Editing the genome of human induced pluripotent stem cells
The advent of human induced pluripotent stem cell (hiPSC) technology has provided a unique opportunity to establish cellular models of disease from individual patients, to study the effects of the underlying genetic aberrations upon multiple different cell types, and understand the underlying molecular and cellular phenotypes. Combining this with recent advances in genome editing techniques such as the clustered regularly interspaced short palindromic repeat (CRISPR) system has provided an ability to repair putative causative alleles in patient lines, or introduce disease alleles into a healthy “WT” cell line to generate isogenic cell pairs that differ in a single genetic change. The simplicity of this technology also enables screening methods to be employed to identify the true causative lesion, which is often impossible to ascertain from human genetic studies alone, and frequently sit within the non-coding genome. I will describe our current technologies that allow highly efficient introduction of a variety of genetic changes in iPSCs and discuss the uses of this technology for in understanding and annotating functional genomic elements.
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Dr Melanie Eckersley-Maslin
The Brian Heap Seminar Room