Peer-Reviewed Journal Details
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Ding Y;O'Brien A;de la Cruz BM;Yang M;Fitzgerald J;Yang G;Li W;McInerney V;Krawczyk J;Lynch SA;Howard L;Allen NM;O'Brien T;Gallagher L;Shen S;
2021
February
Stem Cell Research
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1¿ deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).
Published
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52
NRXN1 encodes thousands of splicing variants categorized into long NRXN1¿, short NRXN1ß and extremely short NRXN1¿, which exert differential roles in neuronal excitation/inhibition. NRXN1¿ 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¿+/-, 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¿ function in human neurons and in ASD.
1876-7753
10.1016/j.scr.2021.102222
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