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 |
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| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102007 |
| PubMed | 33010677 |
| DOI | 10.1016/j.scr.2020.102007 |