(A) 61 genes are differentially spliced in postmortem neurons that are depleted for TDP-4312,13 and have sufficient read counts to analyze in iPSC LMNs. Those genes are plotted for each cell type and fALS mutation combination. p values were calculated using gene set enrichment analysis (GSEA).
(B) STMN2 splicing in the TARDBP LMN isogenic pair, TDP-43 knockdown,12 and sALS postmortem LMNs.32 Black arrows indicate exon 2a.
(C) Expression of splicing genes in C9ORF72 iPSC LMNs.40 Significant genes are colored in red; n = 6 libraries per condition.
(D) STMN2 splicing in C9ORF72 iPSC LMNs.
(E) Expression of splicing genes in SOD1A4V/+ iPSC LMNs.41 Significant genes are colored in red; n = 3 control libraries and n = 2 SOD1A4V/+ libraries.