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 n...

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Bibliographic Details
Published in:Stem cell research 2020-12, Vol.49, p.102007-102007, Article 102007
Main Authors: Ali, Eltahir, Ferraro, Rosalba Monica, Lanzi, Gaetana, Masneri, Stefania, Piovani, Giovanna, Mazzoldi, Elena Laura, Serpieri, Valentina, Valente, Enza Maria, Giordano, Lucio, Giliani, Silvia Clara
Format: Article
Language:English
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2020.102007