Figure 1.

Mutations in TSC Genes Lead to Decreased TSC Protein Levels in Patient iPSCs

(A–C) Sequencing of patient iPSC line (A) P1A, (B) P1B, and (C) P2.

(D and E) Western blot quantifications of (D) TSC1 and (E) TSC2 protein expression in controls and patients iPSC cells. Individual points indicate the average values of the two patients (P1 and P2) and controls (C1, C2, and C3). P1 and P2 represent four iPSC clones each. A significant difference was obtained in the mean TSC1 and TSC2 protein expression level between the control and patient groups (p < 0.05, unpaired one-tailed t test).

(F) Western blots presenting labeled TSC1, TSC2, and actin protein of four iPSC clones of TSC patient P1 and P2, and three control iPSCs (means ± SEM).

See also Figure S1.