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从两名患有自闭症谱系障碍的患者（NUIGi041-A、NUIG041-B；NUIGi045-A）和一名同胞对照（NUIGi042-A、NUIGi042-B）中诱导产生 iPSC 系。

Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).

机构信息

Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Ireland.

Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Ireland; FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin D02, Ireland.

出版信息

Stem Cell Res. 2021 Apr;52:102222. doi: 10.1016/j.scr.2021.102222. Epub 2021 Feb 2.

DOI:10.1016/j.scr.2021.102222
PMID:33578364
Abstract

NRXN1 encodes thousands of splicing variants categorized into long NRXN1α, short NRXN1β and extremely short NRXN1γ, which exert differential roles in neuronal excitation/inhibition. NRXN1α deletions are common in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. We derived induced pluripotent stem cells (iPSCs) from one sibling control and two ASD probands carrying NRXN1α, using non-integrating Sendai viral method. All iPSCs highly expressed pluripotency markers and could be differentiated into ectodermal/mesodermal/endodermal cells. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. The availability of the iPSCs offers an opportunity for understanding NRXN1α function in human neurons and in ASD.

摘要

NRXN1 编码了数千种剪接变体，分为长 NRXN1α、短 NRXN1β 和极短 NRXN1γ，它们在神经元兴奋/抑制中发挥不同的作用。NRXN1α 缺失在自闭症谱系障碍 (ASD) 和其他神经发育/神经精神疾病中很常见。我们使用非整合性 Sendai 病毒方法，从一个同胞对照和两个携带 NRXN1α 的 ASD 先证者中衍生出诱导多能干细胞 (iPSC)。所有 iPSC 均高度表达多能性标记物，并可分化为外胚层/中胚层/内胚层细胞。iPSC 的基因型和染色体核型通过全基因组 SNP 芯片得到验证。iPSC 的可用性为研究 NRXN1α 在人类神经元和 ASD 中的功能提供了机会。

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