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)

NRXN1 encodes thousands of splicing variants categorized into long NRXN1 alpha, short NRXN1 beta and extremely short NRXN1 gamma, which exert differential roles in neuronal excitation/inhibition. NRXN1 alpha 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 NRXN1 alpha(+/-), 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 NRXN1 alpha function in human neurons and in ASD.

Automated summary

NRXN1 gene encodes numerous splicing variants, with NRXN1 alpha playing a crucial role in neuronal excitation and inhibition, and its deletion being associated with ASD. Induced pluripotent stem cells (iPSCs) derived from ASD patients carrying NRXN1 alpha(+/-) provide an opportunity for further investigating the function of NRXN1 alpha in human neurons and ASD.