从一名由SOX10突变引起并携带GJB2突变的瓦登伯格综合征患者建立诱导多能干细胞系（JTUi002-A）。
Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation.
作者信息
Wang Pengjun, Wang Jingjing, Xing Yazhi, Wang Hui, Yu Dongzhen, Feng Yanmei, Wu Hongmin, Wu Yaqin, Chen Zhengnong, Wang Jiping, Shi Haibo
机构信息
Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute of Shanghai Jiao Tong University, Shanghai 200233, China.
Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute of Shanghai Jiao Tong University, Shanghai 200233, China.
出版信息
Stem Cell Res. 2020 Apr;44:101756. doi: 10.1016/j.scr.2020.101756. Epub 2020 Mar 7.
Waardenburg syndrome (WS) is an inherited auditory-pigmentary syndrome characterized by deafness and pigment abnormalities. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of an 8-year-old boy affected with WS, caused by a novel mutation in the SOX10 gene (NM_006941.3: c.937_947del; p.Tyr313Argfs85), with a concurrent hotspot mutation in the GJB2 gene (NM_004004.5:c.235delC; p.Leu79Cysfs3). The expression of pluripotency markers of the iPSC cell line was verified at both the mRNA and protein levels and the pluripotency state of the cell line was demonstrated by the capability to differentiate into all three germ layers.
瓦登伯革氏综合征（WS）是一种遗传性听觉色素沉着综合征，其特征为耳聋和色素异常。在此，我们使用游离质粒载体，从一名8岁患WS男孩的成纤维细胞中生成了诱导多能干细胞（iPSC）系。该男孩的WS由SOX10基因（NM_006941.3: c.937_947del; p.Tyr313Argfs85）中的一个新突变引起，同时GJB2基因（NM_004004.5:c.235delC; p.Leu79Cysfs3）存在热点突变。iPSC细胞系多能性标志物的表达在mRNA和蛋白质水平均得到验证，并且通过分化为所有三个胚层的能力证明了该细胞系的多能性状态。
Zotero 插件