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. 2020 Dec:49:102007.
doi: 10.1016/j.scr.2020.102007. Epub 2020 Sep 22.

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

Eltahir Ali  1 , Rosalba Monica Ferraro  2 , Gaetana Lanzi  2 , Stefania Masneri  2 , Giovanna Piovani  3 , Elena Laura Mazzoldi  2 , Valentina Serpieri  4 , Enza Maria Valente  4 , Lucio Giordano  5 , Silvia Clara Giliani  2
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Free article

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

Eltahir Ali et al. Stem Cell Res. 2020 Dec.
Free article

Abstract

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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