Stem Cell Research (Dec 2019)

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)

  • Yicheng Ding,
  • Berta Marcó de la Cruz,
  • Yawen Xia,
  • Min Liu,
  • Yin Lu,
  • Veronica McInerney,
  • Janusz Krawczyk,
  • Sally A. Lynch,
  • Linda Howard,
  • Timothy O'Brien,
  • Louise Gallagher,
  • Sanbing Shen

Journal volume & issue
Vol. 41

Abstract

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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.