(A) A genomic region of UBE3A from the father, mother, and the autism proband was amplified and sequenced from immortalized lymphocyte cell lines (the Simon’s Simplex Collection; Family ID: 13873).
(B - E) Endogenous protein levels of (C) UBE3A, (D) HHR23A, and (E) S5a in lymphocyte cell lines were quantified by western blot analysis. Protein levels were normalized to actin and shown as mean intensity ± standard error, n = 3, *p<0.05, A.U., arbitrary units.