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. 2019 Jul;60(8):3084–3090. doi: 10.1167/iovs.19-26930

Figure 3.

Figure 3

Functional analysis of the effect of a novel mutation c.2240+5G>A in SLC4A11 using cDNA derived from CE-like cells. (A) Immunocytochemical staining of CE-like cells derived from iPSCs of a healthy heterozygous carrier of c.2240+5G>A variant (individual I:1 from family C5). The scale bar represents 20 μm. (B) Schematic representation of SLC4A11 transcript with marked variant functionally assessed and primer annealing positions. (C) Electrophoresis of PCR product derived from different sources of cDNA; CE cells gained from a patient with Fuchs endothelial corneal dystrophy (FECD CE), control iPSC CE-like cells and iPSC CE-like cells from subject C5 I:1. (D) Sequence chromatograms of a PCR product spanning SLC4A11 exons 16 to 19 derived from cDNA from CE cells gained from a patient with FECD, CE-like cells from a healthy control individual and from a healthy heterozygous carrier of c.2240+5G>A variant. (E) Schematic representation of results obtained by targeted NGS of cDNA from a heterozygous carrier of c.2240+5G>A (individual I:1 from family C5) showing the precise number of different reads obtained for each of the three transcript variants.