Pathological genetic variants in early iPSC-stage
2021
German Cancer Research Center (DKFZ), Heidelberg, Germany(1)
Stanford University School of Medicine, Stanford, USA(2)
Wellcome Trust Genome Campus, Cambridge, United Kingdom(3)
Stanford University School of Medicine, Stanford, USA(2)
Wellcome Trust Genome Campus, Cambridge, United Kingdom(3)
More than 1.300 iPSC (induced pluripotent stem cells) lines from human donors were mapped in order to identify the genetic variants which are linked to common as well as rare diseases. To date, the impact of genetic variants on disease in a pluripotent state was not well characterized. With the mapping of a large number of cell lines, it was possible to identify new gene variants and gene expression patterns. With pathological mutations being trackable in a very early stage of cell differentiation, iPSCs are suitable for biomedical analyses.
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Marc Jan Bonder(1), Craig Smail(2), Oliver Stegle(3)
Added on: 04-27-2021
[1] www.nature.com/articles/s41588-021-00800-7[2] https://www.bionity.com/en/news/1170153/induced-pluripotent-stem-cells-reveal-causes-of-disease.html
