NF2 deficient IPSC-derived spheroids

NF2 -related Schwannomatosis ( NF2 -SWN) is an inherited autosomal dominant disorder resulting from loss-of-function mutations in the NF2 gene, for which no effective treatment is currently available. Furthermore, truncating variants in NF2 are associated with the severest phenotype compared to in-frame or missense variants. Previously, a shorter NF2 isoform with exon 11 skipped (merlin_e-11), induced through antisense morpholino oligomers (PMOs), was able to partially rescue the deleterious effect of nonsense variants located at that exon in patients’ primary fibroblast. To test the potential of this approach into Schwann cells, those responsible of NF2 -SWN tumours, we developed an iPSC-based model carrying heterozygous and homozygous truncating variants on exon 11 of the NF2 gene and differentiated them to Schwann cells forming spheroids. Once the model was already stablished, we have treated this spheroids with the PMO treatment. The RNA-Seq that we present in this study is the result of treating this spheroid model with the PMO treatment at different timepoints.

• Type: RNASeq
• Archive: European Genome-phenome Archive (EGA)