Duarte, AnaRibeiro, DiogoSantos, RenatoMoreira, LucianaBragança, JoséAmaral, Olga2021-03-092021-03-092020-05Stem Cell Res. 2020 May;45:101794. doi: 10.1016/j.scr.2020.101794. Epub 2020 Apr 20.1873-5061http://hdl.handle.net/10400.18/7382O trabalho foi desenvolvido no DGH do INSA em colaboração com participantes do DGH do Porto e de Lisboa ao abrigo do projeto PTDC/BIM-MEC/4762/2014.Fabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-linked disease, males are primarily affected. This work describes the generation of induced Pluripotent Stem Cells (iPSCs) from skin fibroblasts from a FD patient, using non-integrative episomal vectors. Differentiation of iPSCs can be applied to generate a variety of cell types with high degree of genetic complexity that would otherwise be difficult to obtain.engHuman GeneticsFabry DiseaseInduced Pluripotent Stem CellsCell ModelsLysosomal DisordersBiologia Molecular e CelularModelos CelularesDoenças GenéticasGenétca Humanajournal article10.1016/j.scr.2020.101794