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 w...

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Bibliographic Details
Main Author: Duarte, Ana Joana (author)
Other Authors: Ribeiro, Diogo (author), Santos, Renato (author), Moreira, Luciana (author), Bragança, José (author), Amaral, Olga (author)
Format: article
Language:eng
Published: 2020
Online Access:http://hdl.handle.net/10400.1/14676
Country:Portugal
Oai:oai:sapientia.ualg.pt:10400.1/14676
Description
Summary: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.

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