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

Duarte, Ana; Ribeiro, Diogo; Santos, Renato; Moreira, Luciana; Bragança, José; Amaral, Olga

http://hdl.handle.net/10400.18/7382

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Abstract(s)

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.

Description

O 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.

Keywords

Human Genetics Fabry Disease Induced Pluripotent Stem Cells Cell Models Lysosomal Disorders Biologia Molecular e Celular Modelos Celulares Doenças Genéticas Genétca Humana