Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation


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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Duarte AJ, Ribeiro D, Santos R, Moreira L, Bragança J, Amaral O
Journal Stem cell research
Publication Date 2020 May;45:101794
PubMed 32388441
PubMed Central
DOI 10.1016/j.scr.2020.101794

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