Fig. 1

Characterization of DNA methylation in LMNA-mutant fibroblasts and iPSCs. a Schematic representation of the experimental setup. Cluster branches indicate groups of samples by family. b Stacked bar plot showing the percentage of CpGs (≥ 5 × depth) in a particular feature (Exon, Intergenic, Introns, Promoter from bottom to top) for all samples individually and merged in fibroblast (top) and iPSC (bottom). c Bar plot displaying mean genome-wide DNA methylation percentage using CpGs (≥ 5 × depth) across all samples individually and merged by groups in fibroblasts (tan) and iPSCs (brown). d Example of regions with CpG methylation differences between patient and control fibroblasts. Top, Genome browser track (chr5:497,300–501,700 and chr5:524,000–527,000) displaying DMRs based on mean methylation differences (patient minus control) by group (Family A-specific—green, Family C-specific—purple, Shared—orange). Middle, Methylation levels for patient and control samples by group. Gray regions reflect the location of DMRs from the top track. Bottom, Depiction of RefSeq gene annotation. e 2D density plots of CpG methylation difference (patient minus control) in fibroblasts from Family C (y-axis) or Family A (x-axis) at Shared, Family A-specific, and Family C-specific DMRs