Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene

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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ali E, Ferraro RM, Lanzi G, Masneri S, Piovani G, Mazzoldi EL, Serpieri V, Valente EM, Giordano L, Giliani SC
Journal Stem cell research
Publication Date 2020 Sep 22;49:102007
PubMed 33010677
DOI 10.1016/j.scr.2020.102007

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