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
Summary
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. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Giovenale AMG, Turco EM, Ferrone I, Giacometti C, Tomaselli S, Vulcano E, Ferrari D, Candido O, Bernardini L, De Luca A, Trivieri N, Binda E, Onesimo R, D'Arrigo S, Zampino G, Pennuto M, Vescovi AL, Rosati JD |
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| Journal | Stem cell research |
| Publication Date | 2025 Apr 26;86:103726 |
| PubMed | 40311325 |
| DOI | 10.1016/j.scr.2025.103726 |