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Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

作者信息

Giovenale Angela Maria Giada, Turco Elisa Maria, Mazzoni Martina, Ferrone Ilaria, Torres Barbara, Bernardini Laura, Vulcano Edvige, Ferrari Daniela, Onesimo Roberta, D'Arrigo Stefano, Zampino Giuseppe, Pennuto Maria, De Luca Alessandro, Vescovi Angelo Luigi, Rosati Jessica

机构信息

Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG Italy; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.

Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG Italy.

出版信息

Stem Cell Res. 2024 Dec;81:103544. doi: 10.1016/j.scr.2024.103544. Epub 2024 Sep 4.

DOI:10.1016/j.scr.2024.103544
PMID:39260069
Abstract

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.

摘要

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