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
Summary
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. Copyright © 2021. Published by Elsevier B.V.
| Authors | Cui S, Shin YJ, Ko EJ, Lim SW, Ju JH, Lee KI, Lee JY, Yang CW, Chung BH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Mar;51:102214 |
| PubMed | 33545641 |
| DOI | 10.1016/j.scr.2021.102214 |