Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Jessica Rosati; Filomena Altieri; Silvia Tardivo; Elisa Maria Turco; Marina Goldoni; Iolanda Spasari; Daniela Ferrari; Laura Bernardini; Giuseppe Lamorte; Enza Maria Valente; Angelo Luigi Vescovi

doi:10.1016/j.scr.2018.01.012

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Stem Cell Res. 2018 Mar:27:74-77. doi: 10.1016/j.scr.2018.01.012. Epub 2018 Jan 9.

Authors

Affiliations

¹ IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy. Electronic address: [email protected].
² IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
³ Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy.
⁴ IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.
⁵ Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy.
⁶ Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Molecular Medicine, University of Pavia, Via Forlanini 14, Pavia 27100, Italy.
⁷ IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy; IRCCS Casa Sollievo della Sofferenza, viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.

PMID: 29334628
DOI: 10.1016/j.scr.2018.01.012

Abstract

Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / metabolism*
Adaptor Proteins, Signal Transducing / genetics
Adaptor Proteins, Vesicular Transport
Cells, Cultured
Cerebellum / abnormalities*
Cerebellum / metabolism
Eye Abnormalities / genetics*
Eye Abnormalities / metabolism*
Fibroblasts / metabolism*
Fibroblasts / pathology
Homozygote
Humans
Induced Pluripotent Stem Cells / metabolism*
Karyotype
Kidney Diseases, Cystic / genetics*
Kidney Diseases, Cystic / metabolism*
Mutation / genetics*
Mutation, Missense / genetics
Retina / abnormalities*
Retina / metabolism

Substances

AHI1 protein, human
Adaptor Proteins, Signal Transducing
Adaptor Proteins, Vesicular Transport

Supplementary concepts

Agenesis of Cerebellar Vermis