Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

Filomena Altieri; Angela D'Anzi; Francesco Martello; Silvia Tardivo; Iolanda Spasari; Daniela Ferrari; Laura Bernardini; Giuseppe Lamorte; Gianluigi Mazzoccoli; Enza Maria Valente; Angelo Luigi Vescovi; Jessica Rosati

doi:10.1016/j.scr.2019.101480

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

Stem Cell Res. 2019 Jul:38:101480. doi: 10.1016/j.scr.2019.101480. Epub 2019 Jun 5.

Affiliations

¹ Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
² Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy.
³ Fondazione IRCCS Casa Sollievo della Sofferenza, Medical Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
⁴ Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, Italy.
⁵ IRCCS Casa Sollievo della Sofferenza, Division of Internal Medicine and Chronobiology Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
⁶ Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100 Pavia, Italy.
⁷ Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, Italy.
⁸ Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address: [email protected].

Abstract

Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a homozygous missense mutation (c.2168G > A) in AHI1, the first gene to be associated with JS, were produced using a virus-free protocol.

Publication types

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

MeSH terms

Abnormalities, Multiple* / genetics
Abnormalities, Multiple* / metabolism
Abnormalities, Multiple* / pathology
Adaptor Proteins, Vesicular Transport* / genetics
Adaptor Proteins, Vesicular Transport* / metabolism
Adult
Cell Line
Cerebellum / abnormalities*
Cerebellum / metabolism
Cerebellum / pathology
Eye Abnormalities* / genetics
Eye Abnormalities* / metabolism
Eye Abnormalities* / pathology
Homozygote*
Humans
Induced Pluripotent Stem Cells* / metabolism
Induced Pluripotent Stem Cells* / pathology
Kidney Diseases, Cystic* / genetics
Kidney Diseases, Cystic* / metabolism
Kidney Diseases, Cystic* / pathology
Male
Mutation, Missense*
Retina / abnormalities*
Retina / metabolism
Retina / pathology

Substances

AHI1 protein, human
Adaptor Proteins, Vesicular Transport

Supplementary concepts

Agenesis of Cerebellar Vermis