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.

Casamassa, A., Zanetti, A., Ferrari, D., Lombardi, I., Galluzzi, G., D'Avanzo, F., et al. (2022). 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, 63(August 2022) [10.1016/j.scr.2022.102846].

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

Ferrari, Daniela;Lombardi, Ivan;Vescovi, Angelo Luigi;
2022

Abstract

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.
No
Articolo in rivista - Articolo scientifico
Scientifica
Glycosaminoglycans; Humans; Iduronic Acid; Phenotype; Iduronate Sulfatase; Induced Pluripotent Stem Cells; Mucopolysaccharidosis II
English
5
Casamassa, A., Zanetti, A., Ferrari, D., Lombardi, I., Galluzzi, G., D'Avanzo, F., et al. (2022). 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, 63(August 2022) [10.1016/j.scr.2022.102846].
Casamassa, A; Zanetti, A; Ferrari, D; Lombardi, I; Galluzzi, G; D'Avanzo, F; Cipressa, G; Bertozzi, A; Torrente, I; Vescovi, A; Tomanin, R; Rosati, J
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/391463
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