Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan McDermid syndrome and autism
Expression profiling by high throughput sequencing
Summary
We developed human induced pluripotent stem cell (hiPSC)-based models of PMS by reprogramming peripheral blood samples from individuals with PMS (n=7) and their unaffected siblings (n=6).
Overall design
For each participant, up to three hiPSC clones were generated and differentiated into induced neural progenitor cells (hiPSC-NPCs; n=39) and induced forebrain neurons (hiPSC-neurons; n=41). Genome-wide RNA-sequencing was applied to explore transcriptional differences between PMS probands and unaffected siblings.
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