Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation
Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation
复制标题
从具有转化生长因子-β 受体-2 基因突变的 Loeys-Dietz 综合征患者中产生诱导多能干细胞系
DOI：
10.1016/j.scr.2017.03.012
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发表时间：
2017-04-01
影响因子：
1.2
通讯作者：
Wang, Chunsheng
中科院分区：
文献类型：
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作者：
Hu, Kui;Li, Jun;Wang, Chunsheng
Loeys-Dietz综合征（LDS）是一种常染色体显性结缔组织疾病，通常由转化生长因子β受体（TGFBR）-1或TGFBR 2基因突变引起。本研究描述了从具有TGFBR 2突变（R193 W）的LDS患者获得的外周血单核细胞产生人诱导多能干细胞（hiPSC）。分析证实，细胞具有正常的核型，表达典型的多能性标志物，具有在体内分化成所有三个胚层的能力，并且保留了来自衍生的hiPSC的TGFBR 2突变。这种iPSC系代表了研究LDS疾病机制的潜在有用工具。(C)2017由Elsevier B. V.出版
Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder, commonly caused by genetic mutation of transforming growth factor-beta receptor (TGFBR)-1 or TGFBR2. This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W). Analysis confirmed the cells had a normal karyotype, expressed typical pluripotency markers, had the ability to differentiate into all three germ layers in vivo, and retained the TGFBR2 mutation from the derived hiPSCs. This iPSC line represents a potentially useful tool for investigating LDS disease mechanisms. (C) 2017 Published by Elsevier B.V.