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.

doi:10.1016/j.scr.2025.103726

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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.

Stem cell research - 1 Aug 2025

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

Abstract excerpt

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...

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PMID: 40311325
DOI: 10.1016/j.scr.2025.103726

Genes

RAI1
SMS

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