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_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.
Authors
- T. Stellato
- Anna Ardissone (ORCID: https://orcid.org/0000-0003-1969-0147)
- Ginevra Zanni (ORCID: https://orcid.org/0000-0002-6367-1843)
- Lorelai Bianca
- Roberta Battini (ORCID: https://orcid.org/0000-0002-7889-1355)
- Silvana Briuglia (ORCID: https://orcid.org/0000-0002-5213-441X)
- Enza Maria Valente (ORCID: https://orcid.org/0000-0002-0600-6820)
- Ennio De Gregorio (ORCID: https://orcid.org/0000-0002-7706-0162)
- Lidia Pollara (ORCID: https://orcid.org/0000-0003-3129-8519)
- Virginie Sottile (ORCID: https://orcid.org/0000-0002-6064-5738)
- Elisabetta De Gasperi
- V Buonofiglio
- M Brusa
Institutions
- University of Messina (IT)
- University of Pavia (IT)
- Foundation Center (US)
- Bambino Gesù Children's Hospital (IT)
- Fondazione Stella Maris (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-05-10
- DOI
- https://doi.org/10.1016/j.scr.2025.103734
- Citations
- 2
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63