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

被引：3

作者：

Altieri, Filomena ^{[1
]}

D'Anzi, Angela ^{[1
]}

Martello, Francesco ^{[1
]}

Tardivo, Silvia ^{[2
]}

Spasari, Iolanda ^{[3
]}

Ferrari, Daniela ^{[4
]}

Bernardini, Laura ^{[3
]}

Lamorte, Giuseppe ^{[3
]}

Mazzoccoli, Gianluigi ^{[5
,6
]}

Valente, Enza Maria ^{[2
,7
]}

Vescovi, Angelo Luigi ^{[1
,4
]}

Rosati, Jessica ^{[1
]}

机构：

[1] Fdn IRCCS Casa Sollievo Sofferenza, Cellular Reprogramming Unit, Viale Cappuccini, I-71013 Foggia, Italy

[2] IRCCS Santa Lucia Fdn, Neurogenet Unit, I-00143 Rome, Italy

[3] Fdn IRCCS Casa Sollievo Sofferenza, Med Genet Unit, Viale Cappuccini, I-71013 Foggia, Italy

[4] Bicocca Univ, Biotechnol & Biosci Dept, Piazza Sci 2, I-20126 Milan, Italy

[5] IRCCS Casa Sollievo Sofferenza, Div Internal Med, Viale Cappuccini, I-71013 Foggia, Italy

[6] Chronobiol Unit, Viale Cappuccini, I-71013 Foggia, Italy

[7] Univ Pavia, Dept Mol Med, Via Forlanini 14, I-27100 Pavia, Italy

来源：

STEM CELL RESEARCH | 2019年 / 38卷

关键词：

MUTATIONS; AHI1;

D O I：

10.1016/j.scr.2019.101480

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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 virusfree protocol.

引用

页数：5

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