Figure 3.

Lymphoblastoid Cells Derived from Family 616 Show No Differences in SEC23B Transcript and Protein Levels between p.Val594Gly Carriers and Wild-Type Individuals

(A) qRT-PCR expression showed no notable trend in SEC23B transcript expression between wild-type individuals and variant carriers. Values are normalized to unaffected individual III-3 and represent three technical replicates for which data represent mean values ± SEM. ^∗∗p < 0.01, ^∗p < 0.05 (two-sided Student’s t test).

(B) SEC23B levels and quantification by western blot. PTEN-mutation-positive lymphoblastoid cells (LCLs) from other CS individuals were also used as internal exploratory controls. 1019XX, 1202XX, and 4406XX represent healthy control LCLs unrelated to the pedigree.

SEC23B-mutation carriers from the pedigree are indicated by asterisks in each panel. “aa” refers to the amino acids targeted by the SEC23B antibody.