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

Stem Cell Res. 2019 Jul:38:101480. doi: 10.1016/j.scr.2019.101480. Epub 2019 Jun 5.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / metabolism
  • Abnormalities, Multiple* / pathology
  • Adaptor Proteins, Vesicular Transport* / genetics
  • Adaptor Proteins, Vesicular Transport* / metabolism
  • Adult
  • Cell Line
  • Cerebellum / abnormalities*
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • Eye Abnormalities* / genetics
  • Eye Abnormalities* / metabolism
  • Eye Abnormalities* / pathology
  • Homozygote*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Induced Pluripotent Stem Cells* / pathology
  • Kidney Diseases, Cystic* / genetics
  • Kidney Diseases, Cystic* / metabolism
  • Kidney Diseases, Cystic* / pathology
  • Male
  • Mutation, Missense*
  • Retina / abnormalities*
  • Retina / metabolism
  • Retina / pathology

Substances

  • AHI1 protein, human
  • Adaptor Proteins, Vesicular Transport

Supplementary concepts

  • Agenesis of Cerebellar Vermis