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

Research output: Contribution to journal › Article

1 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, [101480]. https://doi.org/10.1016/j.scr.2019.101480

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.

In: Stem Cell Research, Vol. 38, 101480, 07.2019.

Research output: Contribution to journal › 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. In: Stem Cell Research. 2019 ; Vol. 38.

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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.",

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