| Autor: |
Angela Maria Giada Giovenale, Elisa Maria Turco, Martina Mazzoni, Ilaria Ferrone, Barbara Torres, Laura Bernardini, Edvige Vulcano, Daniela Ferrari, Roberta Onesimo, Stefano D’Arrigo, Giuseppe Zampino, Maria Pennuto, Alessandro De Luca, Angelo Luigi Vescovi, Jessica Rosati |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Stem Cell Research, Vol 81, Iss , Pp 103544- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2024.103544 |
| Popis: |
Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an interstitial deletion of ∼ 3.7 Mb (17p11.2, including the RAI1 gene) in 90 % of cases and a mutation on the RAI1 gene in only 10 % of cases. We generated and characterized a human pluripotent stem cell line (hIPSCs) derived from primary fibroblasts of a 17-year-old woman carrying a 17p11.2 deletion including the RAI1 gene. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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