Skip to main content
. Author manuscript; available in PMC: 2022 Aug 3.
Published in final edited form as: Circulation. 2021 Apr 30;144(5):382–392. doi: 10.1161/CIRCULATIONAHA.120.049844

Figure 2. Single-cell RNA-seq of isogenic hiPSC-CMs carrying the PLN R14del mutation.

Figure 2.

a-b, Unbiased identification of cell clusters using t-SNE-based clustering of single-cell transcriptomes showing a two-dimensional visualization with distinctly isolated cell subpopulations (n = 5,279 cells, healthy donor (PLN WT); n = 3,965 cells, healthy donor PLN R14del introduced (PLN R14del))

c-d, Subpopulations were classified based on canonical marker gene expression.

e, Heatmap display of 77 differentially expressed genes in the cardiomyocyte subpopulations.

f, GSEA pathway enrichment analysis.

g, Comparison of UPR hallmark differential gene expression between cardiomyocyte and non-cardiomyocyte subpopulations in HD and R14del introduced hiPSC-CMs

h, Western blot expression analysis of UPR proteins from paired isogenic hiPSC-CMs lines (n = 3 batches).

i, Assessment of the UPR activity in living hiPSC-CMs (patient PLN14del (PLN R14del) and patient PLN R14del corrected (PLN WT)) transduced with AAV-F-XBP1ΔDBD (3 batches, n = 4-6 wells each). Statistical significance represented as differences between PLN WT vs PLN R14del in either control or isoproterenol (iso) conditions.

Data were presented as mean ± SEM. * p < 0.05, *** p < 0.0005.