Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)
Summary
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Rosati J, Altieri F, Tardivo S, Turco EM, Goldoni M, Spasari I, Ferrari D, Bernardini L, Lamorte G, Valente EM, Vescovi AL |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Mar;27:74-77 |
| PubMed | 29334628 |
| DOI | 10.1016/j.scr.2018.01.012 |