Figure 1.
Generation of HPS2-iPSCs and cHPS2-iPSCs
(A) Schematic overview of the generation of HPS2-iPSCs and cHPS2-iPSCs.
(B) Different mutations in each allele of the patient fibroblasts.
(C) Strategy for correcting the mutation in exon 18.
(D) Sequence data of exon 18 in donor fibroblasts, HPS2-iPSCs, and cHPS2-iPSCs. The mutation was corrected in cHPS2-iPSCs.
(E) qRT-PCR of AP3B1 in each cell line. 201B7 was used for control iPSCs (mean ± SEM, n = 3 independent experiments). A one-way ANOVA with Tukey's multiple comparisons test was used. ∗p < 0.05; n.s., not significant.
(F) IF staining of the β3A subunit of AP-3 complex in each iPSC line. 201B7 was used for control iPSCs. Scale bars, 100 μm.
(G) Surface CD63 expression in control iPSCs, HPS2-iPSCs, and cHPS2-iPSCs. 201B7 was used for control iPSCs.
(H) Median fluorescence intensity of CD63-Alexa647 (mean ± SEM, n = 3 independent experiments). A one-way ANOVA with Tukey's multiple comparisons test was used. ∗p < 0.05; n.s., not significant.
See also Figure S1.