Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
2019
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
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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