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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Autores principales: Altieri, Filomena, D'Anzi, Angela, Martello, Francesco, Tardivo, Silvia, Spasari, Iolanda, Ferrari, Daniela, Bernardini, Laura, Lamorte, Giuseppe, Mazzoccoli, Gianluigi, Valente, Enza Maria, Vescovi, Angelo Luigi, Rosati, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617992/
https://www.ncbi.nlm.nih.gov/pubmed/31202121
http://dx.doi.org/10.1016/j.scr.2019.101480
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author Altieri, Filomena
D'Anzi, Angela
Martello, Francesco
Tardivo, Silvia
Spasari, Iolanda
Ferrari, Daniela
Bernardini, Laura
Lamorte, Giuseppe
Mazzoccoli, Gianluigi
Valente, Enza Maria
Vescovi, Angelo Luigi
Rosati, Jessica
author_facet Altieri, Filomena
D'Anzi, Angela
Martello, Francesco
Tardivo, Silvia
Spasari, Iolanda
Ferrari, Daniela
Bernardini, Laura
Lamorte, Giuseppe
Mazzoccoli, Gianluigi
Valente, Enza Maria
Vescovi, Angelo Luigi
Rosati, Jessica
author_sort Altieri, Filomena
collection PubMed
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.
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spelling pubmed-66179922019-07-22 Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome Altieri, Filomena D'Anzi, Angela Martello, Francesco Tardivo, Silvia Spasari, Iolanda Ferrari, Daniela Bernardini, Laura Lamorte, Giuseppe Mazzoccoli, Gianluigi Valente, Enza Maria Vescovi, Angelo Luigi Rosati, Jessica Stem Cell Res Article 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. Elsevier 2019-07 /pmc/articles/PMC6617992/ /pubmed/31202121 http://dx.doi.org/10.1016/j.scr.2019.101480 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Altieri, Filomena
D'Anzi, Angela
Martello, Francesco
Tardivo, Silvia
Spasari, Iolanda
Ferrari, Daniela
Bernardini, Laura
Lamorte, Giuseppe
Mazzoccoli, Gianluigi
Valente, Enza Maria
Vescovi, Angelo Luigi
Rosati, Jessica
Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
title 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_short 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
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617992/
https://www.ncbi.nlm.nih.gov/pubmed/31202121
http://dx.doi.org/10.1016/j.scr.2019.101480
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