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

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

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 i...

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Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2019-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119301102
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spelling doaj-f24f72951da54164b75fa842cf17bebb2020-11-25T01:14:15ZengElsevierStem Cell Research1873-50612019-07-0138Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert SyndromeFilomena Altieri0Angela D'Anzi1Francesco Martello2Silvia Tardivo3Iolanda Spasari4Daniela Ferrari5Laura Bernardini6Giuseppe Lamorte7Gianluigi Mazzoccoli8Enza Maria Valente9Angelo Luigi Vescovi10Jessica Rosati11Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyNeurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Medical Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyBiotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Medical Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Medical Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyIRCCS Casa Sollievo della Sofferenza, Division of Internal Medicine and Chronobiology Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, ItalyNeurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100 Pavia, ItalyFondazione 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, ItalyFondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506119301102
collection DOAJ
language English
format Article
sources DOAJ
author 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
spellingShingle 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
Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
Stem Cell Research
author_facet 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
author_sort Filomena Altieri
title Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
title_short Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
title_full Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
title_fullStr Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
title_full_unstemmed Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
title_sort production and characterization of human induced pluripotent stem cells (ipsc) cssi007-a (4383) from joubert syndrome
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-07-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506119301102
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