Active / Project
Rare disease stem cell models
Investigating molecular variation in iPSCs from individuals with rare genetic diseases.
Research overview
Investigating molecular variation in iPSCs from individuals with rare genetic diseases.
This project brings together experimental stem cell models and computational analysis. Explore the related research topic for more about the scientific approach.
Related research
Related publications
- 2023
Puigdevall P, Jerber J, Danecek P, Castellano S, Kilpinen H. Effects of somatic mutations on cellular differentiation in iPSC models of neurodevelopment. Cell Genomics. 10.1016/j.xgen.2023.100280
- 2021
Bonder MJ, Smail C, Gloudemans MJ, et al. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nature Genetics. 10.1038/s41588-021-00800-7
- 2020
Mirauta BA, Seaton DD, Bensaddek D, et al. Population-scale proteome variation in human induced pluripotent stem cells. eLife. 10.7554/eLife.57390