Cell Culture
Fibroblasts of affected individuals carrying the homozygous c.41T>C in EXOSC9 (individual 1:II-1), the homozygous c.5C>T in EXOSC8,17 the homozygous c.92G>C in EXOSC3,29 homozygous c.236C > G in RBM7,19 and controls were grown in high-glucose Dulbecco’s modified Eagle’s medium (Sigma) supplemented with 10% fetal bovine serum and 1% penicillin and streptomycin.