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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Bibliographic Details
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
Description
Summary: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.
ISSN:1873-5061

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