Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)

从携带 NRXN1α 基因中间编码区缺失的男性 ASD 患者(NUIGi039-A 和 NUIGi039-B)和男性同胞对照(NUIGi040-A 和 NUIGi040-B)中衍生出四种 iPSC 系

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作者:Yicheng Ding, Aisling O'Brien, Berta Marcó de la Cruz, Meimei Yang, Yin Lu, Xiaohong Qian, Guangming Yang, Veronica McInerney, Janusz Krawczyk, Sally A Lynch, Linda Howard, Nicholas M Allen, Timothy O'Brien, Louise Gallagher, Sanbing Shen

Abstract

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.

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