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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Altieri F, D'Anzi A, Martello F, Tardivo S, Spasari I, Ferrari D, Bernardini L, Lamorte G, Mazzoccoli G, Valente EM, Vescovi AL, Rosati J
Journal Stem cell research
Publication Date 2019 Jul;38:101480
PubMed 31202121
PubMed Central PMC6617992
DOI 10.1016/j.scr.2019.101480

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