Figure 1.

Cell line establishment. Fabry patient’s fibroblasts carrying a deletion of exons 3 and 4 in the GLA gene were obtained from a Telethon biobank. They were immortalized (IF), then stably transfected with an empty vector (IF-NULL), the wt-GLA (IF-GLA), or different GLA pathogenic mutants (IF-GLA-MUTs) (A). GLA expression (RNA) was measured by RT-qPCR (n = 3); the selected cell lines did not over-express GLA compared to healthy fibroblasts (B).