Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)


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

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