Fig. 3

PIK3CA^mut clusters express neural crest markers. (a) UMAP plot of cultured skin cells mapped to a normal human skin cell reference. (b) UMAP plot of normal human skin cell reference with melanocytes (pink) and Schwann cells (purple) highlighted. Feature plots (right) showing the wide expression of the bHLH transcription factor HES1 across multiple cell clusters and the limited expression of neural crest transcription factor PAX3 in melanocytes and Schwann cells. (c) Barplot displaying percent of genotyped cells in each cell type. (d) Feature plot (top) showing expression of the Notch-regulated bHLH transcription factor HES1 and the NOTCH3 receptor in the PIK3CA^wt enriched clusters and violin plot (lower) showing expression of HES1 transcript in PIK3CA^mut versus PIK3CA^wt clusters. (e) Feature plot (top) showing expression of the neural crest transcription factors PAX3 and SOX11 in the PIK3CA^mut enriched clusters and violin plot (lower) showing expression of HES1 transcript in PIK3CA^mut versus PIK3CA^wt clusters. (f) Dotplot showing expression of top 10 expressed markers in PI3KCA^wt versus PIK3CA^mut cells.