Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation
Year: 2025
Type: article
Abstract: 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.
Source: Stem Cell Research
Authors: Angela Maria Giada Giovenale, Elisa Maria Turco, Ilaria Ferrone, Chiara Giacometti, Silvia Tomaselli, Edvige Vulcano, Daniela Ferrari, Ornella Candido, Laura Bernardini, Alessandro De Luca, Nadia Trivieri, Elena Binda, Roberta Onesimo, Stefano D’Arrigo, Giuseppe Zampino, Maria Pennuto, Angelo Luigi Vescovi, Jessica Diana Rosati
Institutions: Casa Sollievo della Sofferenza, University of Milano-Bicocca, Agostino Gemelli University Polyclinic, Istituti di Ricovero e Cura a Carattere Scientifico, Fondazione IRCCS Istituto Neurologico Carlo Besta, Università Cattolica del Sacro Cuore, University of Padua, Veneto Institute of Molecular Medicine, Link Campus University, Saint Camillus International University of Health and Medical Sciences
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
Award: G2386816983
OpenAlex ID: W4409839198