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Article

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

Stem cell research - 1 Dec 2020

Ali Eltahir, Ferraro Rosalba Monica, Lanzi Gaetana, Masneri Stefania, Piovani Giovanna, Mazzoldi Elena Laura, Serpieri Valentina, Valente Enza Maria, Giordano Lucio, Giliani Silvia Clara

Abstract excerpt

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.

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Identifiers

PMID: 33010677
DOI: 10.1016/j.scr.2020.102007

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Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.PMID 33010677Read ↗

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