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
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 hetero...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-08-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000765 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850213551914876928 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Angela Maria Giada Giovenale |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-33a8042521864ea7a8d3d034bb8dd4ba |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-33a8042521864ea7a8d3d034bb8dd4ba2025-08-20T02:09:07ZengElsevierStem Cell Research1873-50612025-08-018610372610.1016/j.scr.2025.103726Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutationAngela Maria Giada Giovenale0Elisa Maria Turco1Ilaria Ferrone2Chiara Giacometti3Silvia Tomaselli4Edvige Vulcano5Daniela Ferrari6Ornella Candido7Laura Bernardini8Alessandro De Luca9Nadia Trivieri10Elena Binda11Roberta Onesimo12Stefano D’Arrigo13Giuseppe Zampino14Maria Pennuto15Angelo Luigi Vescovi16Jessica Diana Rosati17Cellular 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, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG, 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, 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, ItalyMedical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, ItalyCancer Stem Cells Unit, ISBReMIT, IRCSS Casa Sollievo della Sofferenza, Opera di San Pio da Pietrelcina, San Giovanni Rotondo, FG, ItalyCancer Stem Cells Unit, ISBReMIT, IRCSS Casa Sollievo della Sofferenza, Opera di San Pio da Pietrelcina, San Giovanni Rotondo, FG, 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, ItalyCellular 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; Università of Study Link Campus University - Roma, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, FG, Italy; UniCamillus - Saint Camillus International University of Health Sciences, Via di Sant’Alessandro, 8- 00131 Rome, Italy; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506125000765 |
| spellingShingle | 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 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 Stem Cell Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000765 |
| work_keys_str_mv | AT angelamariagiadagiovenale generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT elisamariaturco generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT ilariaferrone generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT chiaragiacometti generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT silviatomaselli generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT edvigevulcano generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT danielaferrari generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT ornellacandido generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT laurabernardini generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT alessandrodeluca generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT nadiatrivieri generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT elenabinda generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT robertaonesimo generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT stefanodarrigo generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT giuseppezampino generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT mariapennuto generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT angeloluigivescovi generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation AT jessicadianarosati generationandcharacterizationofthecssi021a15665humaninducedpluripotentstemcelllinefromasmithmagenissyndromepatientwithaheterozygousrai1mutation |