Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene

We have developed Joubert syndrome (JS)-derived induced pluripotent stem cell (iPSC) lines from dermal fibroblasts biopsied from a female patient harbouring novel compound heterozygous mutations in CC2D2A gene. The newly established iPSC lines provide tremendous promises for development of JS-derived neuronal cell lines to uncover the molecular and cellular mechanisms underlying the pathogenesis of JS and to develop therapeutic interventions for treatment of JS.

Automated summary

The establishment of Joubert syndrome (JS)-derived induced pluripotent stem cell (iPSC) lines from dermal fibroblasts of a female patient with novel compound heterozygous mutations in the CC2D2A gene holds great promise for uncovering the molecular and cellular mechanisms of JS pathogenesis and developing therapeutic interventions for the condition.