Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region
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 case...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124002423 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Angela Maria Giada Giovenale |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c7d1741ad7fa4ba3a093621038ca309c |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-c7d1741ad7fa4ba3a093621038ca309c2025-08-20T01:59:34ZengElsevierStem Cell Research1873-50612024-12-018110354410.1016/j.scr.2024.103544Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome regionAngela Maria Giada Giovenale0Elisa Maria Turco1Martina Mazzoni2Ilaria Ferrone3Barbara Torres4Laura Bernardini5Edvige Vulcano6Daniela Ferrari7Roberta Onesimo8Stefano D’Arrigo9Giuseppe Zampino10Maria Pennuto11Alessandro De Luca12Angelo Luigi Vescovi13Jessica Rosati14Cellular 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, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG ItalyMedical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, ItalyMedical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, ItalyDepartment of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, ItalyDepartment of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, ItalyRare Diseases and Birth Defects Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168 Rome, ItalyDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Giovanni Celoria, 11, 20133 Milano, ItalyRare Diseases and Birth Defects Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, 00168 Rome, Italy; Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del S. Cuore, Largo Francesco Vito, 1, 00168 Rome, ItalyVeneto Institute of Molecular Medicine (VIMM), via Orus 2, 35129 Padova, Italy; Department of Biomedical Sciences, University of Padova, via Ugo Bassi 58/B, 35131 Padova, ItalyMedical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG Italy; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506124002423 |
| spellingShingle | 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 Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region Stem Cell Research |
| title | Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region |
| title_full | Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region |
| title_fullStr | Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region |
| title_full_unstemmed | Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region |
| title_short | Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region |
| title_sort | generation of the cssi020 a 14437 ipsc line from a patient carrying a copy number variation cnv in the 17p11 2 chromosome region |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124002423 |
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