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

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

doi:10.1016/j.scr.2020.102007

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

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

Affiliations

¹ Angelo Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy. Electronic address: e.ali@unibs.it.
² Angelo Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy.
³ Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Italy.
⁴ Department of Molecular Medicine, University of Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.
⁵ Unit of Child Neurology and Psychiatry, ASST Spedali Civili di Brescia, Italy.

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

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.

MeSH terms

Abnormalities, Multiple*
Cell Differentiation
Cerebellum / abnormalities
Eye Abnormalities* / genetics
Female
Humans
Induced Pluripotent Stem Cells*
Kidney Diseases, Cystic*
Mutation
Retina / abnormalities

Supplementary concepts

Agenesis of Cerebellar Vermis