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
Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy.
Stem Cell Res. 2019 Jul;38:101480. doi: 10.1016/j.scr.2019.101480. Epub 2019 Jun 5.
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.
乔伯综合征（JS）是一种常染色体隐性神经发育障碍，其特征为先天性小脑和脑干缺陷，属于纤毛病组疾病，该疾病由编码初级纤毛和基体蛋白的基因突变引起。使用无病毒方案培育出了一名携带AHI1基因纯合错义突变（c.2168G > A）患者的人诱导多能干细胞（hiPSC），AHI1是首个被发现与JS相关的基因。
