Seminar Series Helena Kilpinen

Induced pluripotent stem cells (iPSC) are increasingly used to model functional effects of human disease alleles. However, variable characterization of many existing iPSC lines limits their use for research. The Human Induced Pluripotent Stem Cell Initiative (www.hipsci.org) has generated a reference panel of >1000 high-quality iPSC lines from 350 healthy individuals and 210 individuals with a rare genetic disorder in order to characterize the heterogeneity and sources of biological variability in these lines in the context of genetic changes. I will discuss the rapidly accumulating data within the HipSci resource that allows integrative analysis of diverse molecular and cell-level phenotypes, and provides an important baseline for disease-specific studies in iPSCs. Specifically, we found that donor effects are the major driver of cellular heterogeneity in iPSCs, and that they may drive disease susceptibility through molecular changes occurring early in development, which are not captured by adult tissues. We also assessed the phenotypic consequences of rare, genomic copy number mutations that are recurrently seen following iPSC reprogramming.

Dr Helena Kilpinen academic profile.

Hosted by Professor Javier Herrero.

For further information please contact Veronica Dominguez.