such cell lines from repositories around the world will provide invaluable opportunities to investigate the link between genotype and phenotype. Genome editing will form an essential component of such studies, to revert or introduce desired genetic mutations to understand their function by comparison with a fully isogenic background (Fig. 2). iPSC technologies are also amenable to higher throughput studies of multiple SNPs, identification of the causative lesions, loss- and gain-of-function genetic screens to understand disease mechanisms and identify drug targets and high throughput drug screening, which are likely to be highly informative in the coming years (Fig. 1).
