Ding Yicheng, Marcó de la Cruz Berta, Xia Yawen, Liu Min, Lu Yin, McInerney Veronica, Krawczyk Janusz, Lynch Sally A, Howard Linda, O'Brien Timothy, Gallagher Louise, Shen Sanbing
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, Ireland.
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, Ireland; School of Pharmacy, Jiangsu Key Laboratory for Pharmacology and Safety Evaluation of Chinese Materia Medica; Jiangsu Collaborative Innovation Center of Traditional Chinese Medicine (TCM) Prevention and Treatment of Tumor, Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210023, China.
Stem Cell Res. 2019 Dec;41:101653. doi: 10.1016/j.scr.2019.101653. Epub 2019 Nov 13.
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.
NRXN1基因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、癫痫和发育迟缓患者中。人类诱导多能干细胞（iPSC）对于疾病建模和药物研发至关重要，但家族性病例极为罕见。我们在此报告，使用非整合型仙台病毒试剂盒，从两名对照者和三名携带NRXN1α基因的ASD患者中成功获得了家族性iPSC系。通过全基因组SNP阵列验证了所得iPSC的基因型和核型。所有iPSC系均表达了相当水平的多能性标志物，并且能够分化为三个胚层。
