Mutation in STING1 gene, which encodes stimulator of type I IFN gene (STING) leads to its constitutive activation and thereby to a severe vasculopathy and sometimes a lupus-like disease. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a rare heterozygous variant c.463G > A (resulting in a p.V155M substitution) in STING1. Cells from this patient, which were reprogrammed by non-integrative viral transduction, had normal karyotype, expressed pluripotency markers and were able to differentiate into the three germ cell layers.

中文翻译：

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从携带 STING 突变的患者中生成 iPSC 系 (IMAGINi011-A)

STING1 基因（编码 I 型干扰素基因刺激物 (STING)）的突变导致其组成性激活，从而导致严重的血管病变，有时甚至是狼疮样疾病。我们从STING1中携带罕见杂合变异 c.463G > A（导致 p.V155M 取代）的患者中产生了诱导多能干细胞 (iPSC)。来自该患者的细胞通过非整合病毒转导重新编程，具有正常的核型，表达多能性标记，并且能够分化成三个生殖细胞层。