Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/- and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B)

Stem Cell Res. 2019 Dec:41:101653. doi: 10.1016/j.scr.2019.101653. Epub 2019 Nov 13.

Abstract

NRXN1 copy number variation is a rare genetic factor commonly shared among autism spectrum disorder (ASD), schizophrenia, intellectual disability, epilepsy and developmental delay. Human induced pluripotent stem cells (iPSCs) are essential for disease modeling and drug discovery, but familial cases are particularly rare. We report here the derivation of familial iPSC lines from two controls and three ASD patients carrying NRXN1α+/-, using a non-integrating Sendai viral kit. The genotype and karyotype of the resulting iPSCs were validated by whole genome SNP array. All iPSC lines expressed comparable levels of pluripotency markers and could be differentiated into three germ layers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / pathology*
  • Calcium-Binding Proteins / genetics*
  • Cell Line / pathology*
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Male
  • Middle Aged
  • Neural Cell Adhesion Molecules / genetics*
  • Reproducibility of Results

Substances

  • Calcium-Binding Proteins
  • NRXN1 protein, human
  • Neural Cell Adhesion Molecules