Collaborative research, led by Florian Merkle (Wellcome-MRC Institute of Metabolic Science), has analysed the genetics of human pluripotent stem cells (hPSCs) at single nucleotide resolution, revealing a wealth of biological insights and identifying cell lines particularly suitable for diverse applications.
HPSCs are remarkable since they can self-renew indefinitely while retaining the ability to differentiate into many cell types which makes them a powerful resource for studying early human development, modelling disease, drug discovery, and increasingly also for developing cell therapies for use in humans. Published in Cell Stem Cell, the research team from Cambridge, Harvard University, the Broad Institute of MIT and Harvard and elsewhere, used whole genome sequencing (WGS) to identify cell lines harbouring large-scale or single nucleotide genetic variants that likely change their behaviour and utility, but found that most lines lack these variants and are excellent models of human genetics.
To disseminate these data they developed a user-friendly web portal, which allows any approved user with a web browser to readily explore the resource. The team hopes that empowering groups to rationally select cell lines based on genetic criteria will lead to greater reproducibility in stem cell-based research and support the safety of approved stem cell-based therapies.