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

Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)74-77
Number of pages4
JournalStem Cell Research
Volume27
DOIs
Publication statusPublished - Mar 2018

Keywords

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

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