Journal
STEM CELL RESEARCH
Volume 49, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2020.102007
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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.
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