Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency

Stem Cell Res. 2019 Aug;39:101488. doi: 10.1016/j.scr.2019.101488. Epub 2019 Jun 25.


Autism spectrum disorders (ASDs) are a group of diseases that affect social interaction, communication and behavior. Molecular mechanisms involved in the pathogenesis of ASDs are complex due to genetic heterogeneity. Recently, pathogenic variants of SCN2A have been strongly associated with ASDs. Here, we generated iPSCs from a patient with ASD and a heterozygous nonsense mutation in SCN2A, by reprogramming mesenchymal stromal cells with non-integrating vectors. The generated iPSC line expresses pluripotency markers, presents a normal karyotype and is able to differentiate into the three germ layers. This iPSC line is a useful tool for modeling ASD and drug screening studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autism Spectrum Disorder / genetics
  • Autism Spectrum Disorder / metabolism*
  • Cell Line
  • Cellular Reprogramming / genetics
  • Cellular Reprogramming / physiology
  • Flow Cytometry
  • Haploinsufficiency / genetics
  • Haploinsufficiency / physiology
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism*
  • Karyotype
  • Microsatellite Repeats / genetics
  • Mutation / genetics
  • NAV1.2 Voltage-Gated Sodium Channel / genetics*
  • Real-Time Polymerase Chain Reaction


  • NAV1.2 Voltage-Gated Sodium Channel
  • SCN2A protein, human