Experiments were carried out using lymphoblastoid cell lines generated from two healthy children with normal ICR1 and ICR2 methylation (CTRL1 and CTRL2), three children patients with BWS, carrying different ICR1 and/or ICR2 methylation defects (ICR1 hypermethylation, BWS-ICR1; ICR2 hypomethylation, BWS-ICR2; and 11p15.5 pUPD, BWS-UPD), and one child with SRS with hypomethylation of ICR1 (SRS-ICR1) (Table
1).
Patients with BWS and SRS were clinically diagnosed following the clinical criteria for these conditions
3 (link). We carried out the molecular evaluation on peripheral blood lymphocytes from the patients that confirmed the clinical diagnosis (Table
1).
BWS and SRS patient lymphoblastoid cell lines were established from patient blood samples, by Epstein-Barr virus transformation at the Galliera Genetic Bank (a member of the Telethon Network of Genetic Biobanks; project no. GTB12001). Both normal and patient lymphoblastoid cell lines were cultured in RPMI 1640 medium supplemented with 10%
foetal bovine serum (Euroclone) and antibiotics (
antibiotic-antimycotic 100×, Euroclone) at 37 °C in 5% CO
2.
Rovina D., La Vecchia M., Cortesi A., Fontana L., Pesant M., Maitz S., Tabano S., Bodega B., Miozzo M, & Sirchia S.M. (2020). Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients. Scientific Reports, 10, 8275.