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Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)

  • Yicheng Ding
  • , Aisling O'Brien
  • , Berta Marcó de la Cruz
  • , Meimei Yang
  • , Jacqueline Fitzgerald
  • , Guangming Yang
  • , Weidong Li
  • , Veronica McInerney
  • , Janusz Krawczyk
  • , Sally A. Lynch
  • , Linda Howard
  • , Nicholas M. Allen
  • , Timothy O'Brien
  • , Louise Gallagher*
  • , Sanbing Shen
  • *Corresponding author for this work
  • University of Galway
  • Royal College of Surgeons in Ireland
  • Trinity College Dublin
  • Nanjing University of Chinese Medicine
  • Shanghai Jiao Tong University
  • University College Dublin
  • Children’s Health Ireland

Research output: Contribution to journalArticlepeer-review

Abstract

NRXN1 encodes thousands of splicing variants categorized into long NRXN1α, short NRXN1β and extremely short NRXN1γ, which exert differential roles in neuronal excitation/inhibition. NRXN1α deletions are common in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. We derived induced pluripotent stem cells (iPSCs) from one sibling control and two ASD probands carrying NRXN1α+/−, using non-integrating Sendai viral method. All iPSCs highly expressed pluripotency markers and could be differentiated into ectodermal/mesodermal/endodermal cells. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. The availability of the iPSCs offers an opportunity for understanding NRXN1α function in human neurons and in ASD.

Original languageEnglish
Article number102222
JournalStem Cell Research
Volume52
DOIs
Publication statusPublished - Apr 2021
Externally publishedYes

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