Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene


Mucopolysaccharidosis type II (Hunter Syndrome) is a rare X-linked inherited lysosomal storage disorder presenting a wide genetic heterogeneity. It is due to pathogenic variants in the IDS gene, causing the deficit of the lysosomal hydrolase iduronate 2-sulfatase, degrading the glycosaminoglycans (GAGs) heparan- and dermatan-sulfate. Based on the presence/absence of neurocognitive signs, commonly two forms are recognized, the severe and the attenuate ones. Here we describe a line of induced pluripotent stem cells, generated from dermal fibroblasts, carrying the mutation c.479C>T, and obtained from a patient showing an attenuated phenotype. The line will be useful to study the disease neuropathogenesis. Copyright © 2022 Fondazione IRCCS Casa Sollievo della Sofferenza. Published by Elsevier B.V. All rights reserved.

Authors Casamassa A, Zanetti A, Ferrari D, Lombardi I, Galluzzi G, D'Avanzo F, Cipressa G, Bertozzi A, Torrente I, Vescovi AL, Tomanin R, Rosati J
Journal Stem cell research
Publication Date 2022 Aug;63:102846
PubMed 35759972
DOI 10.1016/j.scr.2022.102846

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