Table 1.

Schematic overview of the experimental design.

Cell Line	Causative Genetic Alteration	Dmr Methylation Analysis			3C Assay	Ncounter Analysis
		IC1	MEST-DMR	PEG10-DMR
CTRL1		+	+	+	+	+
CTRL2		+	+	+	+	+
CTRL3		+	+	+	−	+
CTRL4		+	+	+	−	+
CdLS1	SMC1A c.2351T > C	+	+	+	+	+
CdLS2	SMC1A c.173del16	+	+	+	+	+
CdLS3	SMC1A c.2351T > C	+	+	+	−	+
CdLS4	SMC1A c.3497A > C	+	+	+	−	+
CdLS5	SMC1A c.2078G > A	+	+	+	−	+
CdLS6	NIPBL c.-75_ + 65del	+	+	+	+	+
CdLS7	NIPBL c.4253G > A	+	+	+	−	+
CdLS8	NIPBL c.231-1_231-2del	+	+	+	−	+
CdLS9	NIPBL t(5;15)	+	+	+	+	+

Both controls and patient-derived LCLs were cultured in RPMI 1640 medium supplemented with 10% fetal bovine serum (EuroClone, Milano, Italy) and antibiotics (antibiotic-antimycotic 100×, EuroClone, Milano, Italy) at 37 °C in 5% CO₂.