Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation

Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated. These hiPSCs showed typical human embryonic stem cell-like morphology and expressed pluripotency-associated markers, and directly differentiated into all three germ-layers. Karyotyping showed normal 46, XY (CMCi006-A) and 46, XX (CMCi007-A). In summary, we generated novel patient-specific hiPSC lines from both a female and male containing the same mutation, which may provide additional insight into the pathophysiology of FD.

Automated summary

Novel patient-specific human-induced pluripotent stem cell lines were generated from a female and a male with Fabry disease, both containing the same frameshift deletion mutation in the alpha-galactosidase A gene. These hiPSCs exhibited typical human embryonic stem cell-like morphology, expressed pluripotency-associated markers, and could differentiate into all three germ-layers. Karyotyping confirmed normal chromosome numbers for both patients. This study may offer additional insights into the pathophysiology of Fabry disease.