Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene
Summary
We have developed Joubert syndrome (JS)-derived induced pluripotent stem cell (iPSC) lines from dermal fibroblasts biopsied from a female patient harbouring novel compound heterozygous mutations in CC2D2A gene. The newly established iPSC lines provide tremendous promises for development of JS-derived neuronal cell lines to uncover the molecular and cellular mechanisms underlying the pathogenesis of JS and to develop therapeutic interventions for treatment of JS. Copyright © 2021. Published by Elsevier B.V.
| Authors | Ali E, Ferraro RM, Guglielmi A, Lanzi G, Masneri S, Piovani G, Mazzoldi EL, Pollara L, Valente EM, Accorsi P, Giordano L, Giliani SC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Jul;54:102430 |
| PubMed | 34182252 |
| DOI | 10.1016/j.scr.2021.102430 |