Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Dept. of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
Stem Cell Res. 2022 Aug;63:102846. doi: 10.1016/j.scr.2022.102846. Epub 2022 Jun 21.
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.
黏多糖贮积症 II 型（亨特综合征）是一种罕见的 X 连锁遗传性溶酶体贮积症，具有广泛的遗传异质性。它是由于 IDS 基因的致病性变异引起的，导致溶酶体水解酶艾杜糖醛酸 2-硫酸酯酶的缺乏，从而降解糖胺聚糖（GAGs）硫酸乙酰肝素和硫酸皮肤素。根据是否存在神经认知迹象，通常可识别出两种形式，即严重型和减轻型。在这里，我们描述了一条源自皮肤成纤维细胞的诱导多能干细胞系，携带突变 c.479C>T，并从表现出减轻表型的患者中获得。该细胞系将有助于研究疾病的神经发病机制。
