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

Stem cell research - 1 May 2020

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

Abstract excerpt

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,...

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Identifiers

PMID: 32388441
DOI: 10.1016/j.scr.2020.101794

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.PMID 32388441Read ↗

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