Peer-Reviewed Journal Details
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Ding Y;Marcó de la Cruz B;Xia Y;Liu M;Lu Y;McInerney V;Krawczyk J;Lynch SA;Howard L;O'Brien T;Gallagher L;Shen S;
2019
December
Stem Cell Research
Derivation of familial iPSC lines from three ASD patients carrying NRXN1¿+/- and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B).
Published
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41
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 NRXN1¿+/-, 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.
1876-7753
10.1016/j.scr.2019.101653
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