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
Summary
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 |