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

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

doi:10.1016/j.scr.2021.102430

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

Stem Cell Res. 2021 Jul:54:102430. doi: 10.1016/j.scr.2021.102430. Epub 2021 Jun 16.

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 Angelo Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy; Medical Investigation of Neurodevelopmental Disorders (MIND), Institute and Department of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA, USA.
⁴ Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Italy.
⁵ Department of Molecular Medicine, University of Pavia, Italy.
⁶ Department of Molecular Medicine, University of Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.
⁷ Unit of Child Neurology and Psychiatry, ASST Spedali Civili di Brescia, Italy.

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

Abstract

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.

Keywords: CC2D2A; Ciliogenesis; Joubert syndrome; Pluripotency; Stemness; iPSCs.

MeSH terms

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

Supplementary concepts

Agenesis of Cerebellar Vermis