Fragile X Syndrome Patient-Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes

The gene expression profiles of 1 month-old FXS patient-derived and isogenic control neurons transplanted in the brain of mice were compared by single-cell RNA sequencing FXS patient-derived and isogenic control iPSC were differentiated into neural precursor cells, labeled with fluorescent proteins (tdTomato for FXS and GFP for control) and injected in immune deficient mouse neonates. 1 month after injection, the brains were dissociated, and the human cells isolated by FACS sorting. The viable cells (DAPI-negative) were then sent for single-cell RNA sequencing.