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. 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 Dec;49:102007|