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.
