An induced pluripotent stem cells line (SDQLCHi014-A) derived from urine cells of a patient with ASD and hyperactivity carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene

Stem Cell Res. 2019 Dec:41:101635. doi: 10.1016/j.scr.2019.101635. Epub 2019 Nov 2.

Abstract

Autism spectrum disorder (ASD) is a childhood-onset neurodevelopmental disorder challenged in social reciprocity and restrictive repetitive behaviors. Here, we generated an induced pluripotent stem cell (iPSC) line SDQLCHi014-A from a patient with ASD and hyperactivity, carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene by reprogramming urine cells with non-integrating vectors. SDQLCHi014-A have shown full pluripotency, differentiation capacity and genetic stability. This iPSC line provides a valuable resource to study the molecular mechanisms underlying ASD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Attention Deficit Disorder with Hyperactivity / complications*
  • Autism Spectrum Disorder / genetics
  • Autism Spectrum Disorder / pathology*
  • Autism Spectrum Disorder / urine*
  • Base Pairing*
  • Cell Line
  • Child
  • Chromosomes, Human, Pair 3 / genetics*
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Receptors, Metabotropic Glutamate / genetics*
  • Reproducibility of Results
  • Sequence Deletion / genetics*

Substances

  • Receptors, Metabotropic Glutamate
  • metabotropic glutamate receptor 7