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

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

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3 Scopus citations

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.

Original language	English (US)
Article number	101480
Journal	Stem Cell Research
Volume	38
DOIs	https://doi.org/10.1016/j.scr.2019.101480
State	Published - Jul 2019

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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Altieri, F., D'Anzi, A., Martello, F., Tardivo, S., Spasari, I., Ferrari, D., Bernardini, L., Lamorte, G., Mazzoccoli, G., Valente, E. M., Vescovi, A. L., & Rosati, J. (2019). Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome. Stem Cell Research, 38, Article 101480. https://doi.org/10.1016/j.scr.2019.101480

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

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.",

author = "Filomena Altieri and Angela D'Anzi and Francesco Martello and Silvia Tardivo and Iolanda Spasari and Daniela Ferrari and Laura Bernardini and Giuseppe Lamorte and Gianluigi Mazzoccoli and Valente, \{Enza Maria\} and Vescovi, \{Angelo Luigi\} and Jessica Rosati",

note = "Publisher Copyright: {\textcopyright} 2019",

year = "2019",

month = jul,

doi = "10.1016/j.scr.2019.101480",

language = "English (US)",

volume = "38",

journal = "Stem Cell Research",

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AU - Altieri, Filomena

AU - D'Anzi, Angela

AU - Martello, Francesco

AU - Tardivo, Silvia

AU - Spasari, Iolanda

AU - Ferrari, Daniela

AU - Bernardini, Laura

AU - Lamorte, Giuseppe

AU - Mazzoccoli, Gianluigi

AU - Valente, Enza Maria

AU - Vescovi, Angelo Luigi

AU - Rosati, Jessica

PY - 2019/7

Y1 - 2019/7

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

Abstract

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