Analysis of iPSCs allows identification of disease-associated genetic variations

A group based at the German Cancer Research Center and the European Molecular Biology Laboratory (both Heidelberg, Germany), with international collaboration, have determined that induced pluripotent stem cells (iPSCs) can be used to identify genetic variations linked to rare diseases. The results of the paper, published in Nature Genetics, present iPSCs as a potential tool for the analysis of genetic variants on cell differentiation and function. In order to understand the mechanisms behind the genetic diseases that variations such as single nucleotide polymorphisms can sometimes cause, significant efforts have been made to determine in which tissues the variations can be...