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
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.
Authors
- Jessica Rosati (ORCID: https://orcid.org/0000-0002-4483-386X)
- Angela Maria Giada Giovenale (ORCID: https://orcid.org/0000-0003-0291-3359)
- Laura Bernardini (ORCID: https://orcid.org/0000-0002-3554-2817)
- Simona Tomaselli (ORCID: https://orcid.org/0000-0002-8627-6838)
- Alessandro De Luca (ORCID: https://orcid.org/0000-0002-4408-8062)
- Giuseppe Zampino (ORCID: https://orcid.org/0000-0002-2661-4831)
- Nadia Trivieri (ORCID: https://orcid.org/0000-0002-9530-8934)
- Ornella Candido
- Elisa Maria Turco (ORCID: https://orcid.org/0000-0001-8128-1729)
- Maria Pennuto (ORCID: https://orcid.org/0000-0001-8634-0767)
- Stefano D’Arrigo (ORCID: https://orcid.org/0000-0001-5188-9418)
- Roberta Onesimo (ORCID: https://orcid.org/0000-0003-3128-6657)
- Daniela Ferrari (ORCID: https://orcid.org/0000-0001-7251-9854)
- Elena Binda (ORCID: https://orcid.org/0000-0002-8750-2905)
- Angelo L. Vescovi (ORCID: https://orcid.org/0000-0002-1742-4112)
- Chiara Giacometti
- Ilaria Ferrone
- Edvige Vulcano
Institutions
- Casa Sollievo della Sofferenza (IT)
- Agostino Gemelli University Polyclinic (IT)
- Veneto Institute of Molecular Medicine (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University of Milano-Bicocca (IT)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-04-26
- DOI
- https://doi.org/10.1016/j.scr.2025.103726
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.00