Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1Î± deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)

Gallagher, Louise; Lynch, Sally

doi:http://dx.doi.org/10.1016/j.scr.2021.102222

Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1Î± deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)

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1-s2.0-S1873506121000684-main.pdf (6.23 MB)

Date

2021

Authors

Gallagher, Louise

Lynch, Sally

Access

openAccess

Citation

Ding, Y. and O'Brien, A. and de la Cruz, B.M. and Yang, M. and Fitzgerald, J. and Yang, G. and Li, W. and McInerney, V. and Krawczyk, J. and Lynch, S.A. and Howard, L. and Allen, N.M. and O'Brien, T. and Gallagher, L. and Shen, S., Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1Î± deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B), Stem Cell Research, 52, 102222, 2021

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.