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

• Main Authors: Sheng Cui, Yoo Jin Shin, Eun Jeong Ko, Sun Woo Lim, Ji Hyeon Ju, Kang In Lee, Jae Young Lee, Chul Woo Yang, Byung Ha Chung
• Format: Article
• Language: English
• Published: Elsevier 2021-03-01
• Series: Stem Cell Research
• Subjects: Fabry disease; GLA gene; Human induced pluripotent stem cells
• Online Access: http://www.sciencedirect.com/science/article/pii/S187350612100060X
• ISSN: 1873-5061

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.