Peer-Reviewed Journal Details
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Ding Y;O'Brien A;Marc├│ de la Cruz B;Yang M;Lu Y;Qian X;Yang G;McInerney V;Krawczyk J;Lynch SA;Howard L;Allen NM;O'Brien T;Gallagher L;Shen S;
2021
February
Stem Cell Research
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1┬┐ gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B).
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53
NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. Derivation of induced pluripotent stem cells (iPSCs) from different diseases involving different deletion regions are essential, as NRXN1 may produce thousands of splicing variants. We report here the derivation of iPSCs from a sibling control and an ASD proband carrying de novo heterozygous deletions in the middle region of NRXN1, using a non-integrating Sendai viral kit. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. All iPSC lines highly expressed pluripotency markers and could be differentiated into three germ layers.
1876-7753
10.1016/j.scr.2021.102254
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