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
IF 0.8 4区 医学Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
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
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.
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.