Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region
Summary
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Giovenale AMG, Turco EM, Mazzoni M, Ferrone I, Torres B, Bernardini L, Vulcano E, Ferrari D, Onesimo R, D'Arrigo S, Zampino G, Pennuto M, De Luca A, Vescovi AL, Rosati J |
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| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103544 |
| PubMed | 39260069 |
| DOI | 10.1016/j.scr.2024.103544 |