Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes

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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Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125000844
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