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