Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes
Four iPSC lines were generated from patients with Joubert syndrome, two carrying compound heterozygous variants in the RPGRIP1L gene (c.2050C > T/c.2304 + 1G > T for one line, c.751C > T/c.1679C > T for the other) and two harbouring homozygous variants in the CPLANE1 gene (c.8137_8138ins...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000844 |
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| author | L. Pollara E. de Gregorio V. Buonofiglio L. Bianca T. Stellato M. Brusa E. De Gasperi A. Ardissone G. Zanni R. Battini S. Briuglia V. Sottile E.M. Valente |
| author_facet | L. Pollara E. de Gregorio V. Buonofiglio L. Bianca T. Stellato M. Brusa E. De Gasperi A. Ardissone G. Zanni R. Battini S. Briuglia V. Sottile E.M. Valente |
| author_sort | L. Pollara |
| collection | DOAJ |
| description | Four iPSC lines were generated from patients with Joubert syndrome, two carrying compound heterozygous variants in the RPGRIP1L gene (c.2050C > T/c.2304 + 1G > T for one line, c.751C > T/c.1679C > T for the other) and two harbouring homozygous variants in the CPLANE1 gene (c.8137_8138insT for one line, c.4634G > A for the other). Dermal fibroblasts from patients were reprogrammed using the Sendai virus method and the resulting iPSC lines, confirmed to show the same STR profile as parental fibroblasts, displayed a normal karyotype, the expression of undifferentiated PSC markers (OCT4, SOX2, SSEA4 and NANOG) and the ability to differentiate into derivatives of the three germ layers in vitro. |
| format | Article |
| id | doaj-art-829213fb90444785914b4eae3d5723e8 |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-829213fb90444785914b4eae3d5723e82025-08-20T03:10:46ZengElsevierStem Cell Research1873-50612025-08-018610373410.1016/j.scr.2025.103734Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genesL. Pollara0E. de Gregorio1V. Buonofiglio2L. Bianca3T. Stellato4M. Brusa5E. De Gasperi6A. Ardissone7G. Zanni8R. Battini9S. Briuglia10V. Sottile11E.M. Valente12Neurogenetics Research Unit, IRCCS Mondino Foundation, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, ItalyChild Neurology Unit, Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, ItalyRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, ItalyDepartment of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy; IRCCS Foundation Stella Maris, Pisa, ItalyUniversity of Messina, Messina, Italy; Gaetano Martino University Hospital, Messina, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, Italy; Corresponding authors.Department of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Unit, IRCCS Mondino Foundation, Pavia, Italy; Corresponding authors.Four iPSC lines were generated from patients with Joubert syndrome, two carrying compound heterozygous variants in the RPGRIP1L gene (c.2050C > T/c.2304 + 1G > T for one line, c.751C > T/c.1679C > T for the other) and two harbouring homozygous variants in the CPLANE1 gene (c.8137_8138insT for one line, c.4634G > A for the other). Dermal fibroblasts from patients were reprogrammed using the Sendai virus method and the resulting iPSC lines, confirmed to show the same STR profile as parental fibroblasts, displayed a normal karyotype, the expression of undifferentiated PSC markers (OCT4, SOX2, SSEA4 and NANOG) and the ability to differentiate into derivatives of the three germ layers in vitro.http://www.sciencedirect.com/science/article/pii/S1873506125000844 |
| spellingShingle | L. Pollara E. de Gregorio V. Buonofiglio L. Bianca T. Stellato M. Brusa E. De Gasperi A. Ardissone G. Zanni R. Battini S. Briuglia V. Sottile E.M. Valente Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes Stem Cell Research |
| title | Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes |
| title_full | Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes |
| title_fullStr | Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes |
| title_full_unstemmed | Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes |
| title_short | Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes |
| title_sort | production and characterisation of four joubert syndrome patient derived induced pluripotent stem cell ipsc lines with mutations in either rpgrip1l or cplane1 genes |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000844 |
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