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首页> 外文期刊>Stem cell research >Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/? and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B)
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Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/? and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B)

机译:来自携带NRXN1α+ /何种ASD患者的家族IPSC线路的推导和两个对照(Nuigi022-A,Nuigi023-A,Nuigi025-A,Nuigi025-B; Nuigi024-A,Nuigi026-A,Nuigi026-A,Nuigi026-B))

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摘要

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 NRXN1α+/?, 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.
机译:NRXN1拷贝数变异是一种罕见的遗传因素,常见于自闭症谱系障碍(ASD),精神分裂症,智力残疾,癫痫和发育延迟。人诱导多能干细胞(IPSCs)对于疾病建模和药物发现至关重要,但家族状况尤为罕见。我们在此报告来自两种对照的家族IPSC线路和使用非整合仙台病毒套件的三个携带NRXN1α+ /α患者的衍生。通过全基因组SNP阵列验证所得IPSC的基因型和核型。所有IPSC系列表达了可比水平的多能性标记,并且可以分为三个胚层。

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