Generation of AAVS1-EGFP reporter cell lines from an isogenic pair of trisomy 21 and euploid human iPSCs.

Human mouse chimeric models are valuable tools to develop in-vivo disease models. However, in-vivo detection of human cells limits their analysis. To facilitate in-vivo modeling of Down syndrome (DS), we generated a stable AAVS1-EGFP isogenic pair of DS human iPSCs by zinc finger mediated genetic engineering of the AAVS1 locus. These lines overcome the limitation of reporter human iPSCs generated using random integration, which may not express reporter gene in all tissues due to heterochromatin-induced gene silencing. These reporter cell lines provide a valuable tool to facilitate in-vivo tracking of the graft cell integration, differentiation, and distinction from host cells.