Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation
复制标题
从具有 STXBP1 突变的年轻患者猝死后的死后组织中产生三种诱导多能干细胞系
DOI：
10.1016/j.scr.2019.101485
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发表时间：
2019
期刊：
影响因子：
1.2
通讯作者：
Ikematsu K
中科院分区：
文献类型：
--
作者：
Yamamoto T;Otsu M;Okumura T;Horie Y;Ueno Y;Taniguchi H;Ohtaka M;Nakanishi M;Abe Y;Murase T;Umehara T;Ikematsu K
我们从一名患有Lennox-Gastaut综合征的8岁女孩突然意外死亡后产生的死后培养的成纤维细胞中建立了三个iPSC系，该女孩被证明具有R551 H-muffin STXBP 1基因。这些iPSC克隆显示出多能性特征，同时保留了基因型，并证明了三系分化能力，表明它们在疾病建模研究中的实用性，即，STXBP 1-脑病。这是关于从猝死儿童中建立iPSC的第一份报告，表明可能使用死后iPSC技术作为精确识别猝死原因的划时代方法。
We established three iPSC lines from postmortem-cultured fibroblasts derived following the sudden unexpected death of an 8-year-old girl with Lennox-Gastaut syndrome, who turned out to have the R551H-mutantSTXBP1gene. These iPSC clones showed pluripotent characteristics while retaining the genotype and demonstrated trilineage differentiation capability, indicating their utility in disease-modeling studies,i.e.,STXBP1-encephalopathy. This is the first report on the establishment of iPSCs from a sudden death child, suggesting the possible use of postmortem-iPSC technologies as an epoch-making approach for precise identification of the cause of sudden death.