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

Stem Cell Res. 2018 Mar;27:74-77. doi: 10.1016/j.scr.2018.01.012. Epub 2018 Jan 9.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / metabolism*
  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Vesicular Transport
  • Cells, Cultured
  • Cerebellum / abnormalities*
  • Cerebellum / metabolism
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / metabolism*
  • Fibroblasts / metabolism*
  • Fibroblasts / pathology
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Karyotype
  • Kidney Diseases, Cystic / genetics*
  • Kidney Diseases, Cystic / metabolism*
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Retina / abnormalities*
  • Retina / metabolism

Substances

  • AHI1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Adaptor Proteins, Vesicular Transport

Supplementary concepts

  • Agenesis of Cerebellar Vermis