Fig. 1: Generation of UiPSC-derived LBs from patients with congenital cataracts.

a Schematic diagram of the generation of patient-specific LBs. b & c Pedigrees of family 1 (b) and family 2 (c). The squares and circles indicate male and female family members, respectively. The solid and open symbols represent affected and unaffected individuals, respectively. The probands are marked with red arrows. The black arrows represent the family members whose samples were collected as controls. d A comparison between patients’ cataract phenotypes and the morphology of mature patient-specific LBs. Left panels: Slit-lamp photographs of the healthy control, the proband (III:2) from family 1 (CRYBB2-mutated), and the proband (III:10) from family 2 (CRYGD-mutated). The red arrow indicates posterior subcapsular opacity. The red arrowheads indicate lamellar punctate opacity. Middle and right panels: Representative images of normal and patient-specific LBs on D25. The red dashed lines indicate the borders of the LBs. The red arrow and blue dashed line indicate the cord-like structure in the CRYBB2-mutated LBs. Written consent was obtained for publication of the photographs of the patients and the healthy control. L: LB; SC: supporting cells. Scale bars: 250 μm (middle panels), 100 μm (right panels). e Morphology of mature LBs derived from the normal, CRYGD-, and CRYBB2-mutated UiPSCs on D25, as well as rat lens under a dissecting microscope. The red dashed lines indicate the borders of the LBs. The red arrows indicate a punctate or cord-like opacification in a CRYBB2-mutated LB. Scale bars: rat lens: 2 mm; LBs: 0.5 mm. f The optic properties of the normal and patient-specific LBs on D25 via “X” assay under a dissecting microscope. The red dashed lines indicate the borders of the LBs. Scale bar: 1 mm. g Schematic of the consistence between the cataract phenotypes of the patients and the morphologies of patient-specific LBs. The ratio indicates the fraction of LBs that shared a similar morphology with the corresponding patient out of all patient-specific LBs within each group.