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.

Altieri, F., D'Anzi, A., Martello, F., Tardivo, S., Spasari, I., Ferrari, D., et al. (2019). Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome. STEM CELL RESEARCH, 38, 1-5 [10.1016/j.scr.2019.101480].

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

Ferrari D.;Vescovi A. L.;
2019

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.
Articolo in rivista - Articolo scientifico
Induced Pluripotent Stem Cells, Joubert Syndrome
English
2019
38
1
5
101480
none
Altieri, F., D'Anzi, A., Martello, F., Tardivo, S., Spasari, I., Ferrari, D., et al. (2019). Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome. STEM CELL RESEARCH, 38, 1-5 [10.1016/j.scr.2019.101480].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/240569
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