Figure 2 Cell-selective activation of the mTORC1 pathway in tubers and biallelic TSC1 mutations

(A) P-S6–labeled giant cells (GCs) (arrows) in human tuber specimen. (B) Schematic depicting single P-S6–labeled GCs (arrows, holes) removed by laser capture microdissection. Scale bar 250 μm. (C) Germline and somatic TSC1 mutations in microdissected P-S6–labeled GCs. (a) Germline mutation, exon 15 delG2023 (arrow) in P-S6–labeled GCs. The same mutation was identified in leukocyte DNA from this patient. (b) Exon 22 nonsense mutation (3096G>T, 959E>X) in single P-S6–labeled GCs was not detected in leukocyte DNA from this patient.