Figure 1

Urine-derived cells from Fabry patients. (A) Workflow of urine collection and primary cell culture from fresh urine. Experimental analyses described in this study are listed. (B) RT-qPCR of GLA expression, normalized against ACTB expression in control and Fabry patient urine-derived cells which are indicated by their patient number, (mean ± SEM, n = 5 patients and 11 controls, 2-tailed t-test, p = 0,128. (C) α-Gal A activity of patient samples depicts a decrease in enzyme activity compared to control samples (mean ± SEM, n = 5 patients and 9 controls, 2-tailed t-test, p = 0.0063). (D) Immunofluorescence of Gb3 (white), counterstained with DAPI (blue) of control and Fabry patient urine-derived cells (scale bar 20 µm).