具有RAI1杂合突变的Smith-Magenis综合征患者CSSi021-A（15665）人诱导多能干细胞系的产生和特性

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-04-26 DOI:10.1016/j.scr.2025.103726

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

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引用次数: 0

摘要

Smith-Magenis综合征（SMS）是一种罕见的神经发育障碍，由位于17p11.2的维甲酸诱导1 （RAI1）基因单倍性不足引起。据估计，大约90%的患者有17p11.2缺失，包括RAI1基因，而其余10%的患者表现为RAI1基因的杂合突变。在这项研究中，我们报道了从一名14岁的女性身上获得的人类诱导多能干细胞（hiPSC）系，该女性携带RAI1突变，导致SMS表型的发生，从原代成纤维细胞开始。

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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

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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.