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.
Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome / Altieri, F.; D'Anzi, Angela; Martello, F.; Tardivo, S.; Spasari, I.; Ferrari, D.; Bernardini, L.; Lamorte, G.; Mazzoccoli, G.; Valente, E. M.; Vescovi, A. L.; Rosati, J.. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 38:(2019). [10.1016/j.scr.2019.101480]
Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
D'ANZI, ANGELA;Tardivo S.;Valente E. M.;Rosati J.
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.| File | Dimensione | Formato | |
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