当前位置: X-MOL 学术Stem Cell Res. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
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).
Stem Cell Research ( IF 1.2 ) Pub Date : 2019-11-13 , DOI: 10.1016/j.scr.2019.101653
Yicheng Ding 1 , Berta Marcó de la Cruz 1 , Yawen Xia 2 , Min Liu 3 , Yin Lu 4 , Veronica McInerney 5 , Janusz Krawczyk 6 , Sally A Lynch 7 , Linda Howard 1 , Timothy O'Brien 8 , Louise Gallagher 9 , Sanbing Shen 10
Affiliation  

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.



中文翻译:

从三名携带NRXN1α+/-的ASD患者和两个对照(NUIGi022-A,NUIGi022-B; NUIGi023-A,NUIGi023-B; NUIGi025-A,NUIGi025-B; NUIGi024-A,NUIGi024-B; NUIGi026-A,NUIGi026-B)。

NRXN1拷贝数变异是自闭症谱系障碍(ASD),精神分裂症,智力残疾,癫痫和发育迟缓常见的罕见遗传因素。人类诱导的多能干细胞(iPSC)对于疾病建模和药物发现必不可少,但家族性病例尤为罕见。我们在这里报告了使用非整合型仙台病毒试剂盒从两名携带NRXN1α +/-的对照组和三名ASD患者中衍生出家族性iPSC品系。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品系均表达可比较的多能性标记物水平,并可以分为三个细菌层。

更新日期:2019-11-13
down
wechat
bug