Article
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 - 1 Aug 2025
Pollara L, de Gregorio E, Buonofiglio V, Bianca L, Stellato T, Brusa M, De Gasperi E, Ardissone A, Zanni G, Battini R, Briuglia S, Sottile V, Valente E M
Abstract excerpt
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...
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