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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.

Stem cell research - 1 Aug 2022

Casamassa Alessia, Zanetti Alessandra, Ferrari Daniela, Lombardi Ivan, Galluzzi Gaia, D'Avanzo Francesca, Cipressa Gabriella, Bertozzi Alessia, Torrente Isabella, Vescovi Angelo Luigi, Tomanin Rosella, Rosati Jessica

Abstract excerpt

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...

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PMID: 35759972
DOI: 10.1016/j.scr.2022.102846

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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.PMID 35759972Read ↗

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