Giovenale Angela Maria Giada, Turco Elisa Maria, Ferrone Ilaria, Giacometti Chiara, Tomaselli Silvia, Vulcano Edvige, Ferrari Daniela, Candido Ornella, Bernardini Laura, De Luca Alessandro, Trivieri Nadia, Binda Elena, Onesimo Roberta, D'Arrigo Stefano, Zampino Giuseppe, Pennuto Maria, Vescovi Angelo Luigi, Rosati Jessica Diana
Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG, Italy; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.
Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG, Italy.
Stem Cell Res. 2025 Aug;86:103726. doi: 10.1016/j.scr.2025.103726. Epub 2025 Apr 26.
Smith-Magenis syndrome (SMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the Retinoic Acid Induced 1 (RAI1) gene located at 17p11.2. It is estimated that approximately 90% of patients have a 17p11.2 deletion, including the RAI1 gene, while the remaining 10% exhibit a heterozygous mutation in the RAI1 gene. In this study, we report the generation of a human induced pluripotent stem cell (hiPSC) line derived from a 14-year-old female with an RAI1 mutation, which led to the onset of the SMS phenotype, starting from primary fibroblasts.
史密斯-马吉尼斯综合征（SMS）是一种罕见的神经发育障碍，由位于17p11.2的视黄酸诱导1（RAI1）基因单倍剂量不足引起。据估计，约90%的患者存在17p11.2缺失，包括RAI1基因，而其余10%在RAI1基因中表现为杂合突变。在本研究中，我们报告了从一名患有RAI1突变的14岁女性原发性成纤维细胞中生成了人类诱导多能干细胞（hiPSC）系，该突变导致了SMS表型的出现。
