Generation Of Induced Pluripotent Stem Cell (Ipsc) Lines From A Joubert Syndrome Patient With Compound Heterozygous Mutations In C5orf42 Gene

We have generated new disease-specific induced pluripotent stem cell (iPSC) lines from skin fibroblasts obtained from a female patient with Joubert syndrome (JS) caused by compound heterozygous mutations in C5orf42 gene. The generated iPSCs offer an unprecedented opportunity to obtain iPSC-derived neurons to investigate the pathogenesis of JS in vitro and to develop therapeutic strategies.