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Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.

Stem cell research - 1 Jul 2021

Ali Eltahir, Ferraro Rosalba Monica, Guglielmi Adele, Lanzi Gaetana, Masneri Stefania, Piovani Giovanna, Mazzoldi Elena Laura, Pollara Lidia, Valente Enza Maria, Accorsi Patrizia, Giordano Lucio, Giliani Silvia Clara

Abstract excerpt

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...

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PMID: 34182252
DOI: 10.1016/j.scr.2021.102430

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