Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene
Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene
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源自携带 KIT 基因杂合突变的肥大细胞增多症患者的人诱导多能干细胞系 (SDQLCHi005-A) 的建立
DOI：
10.1016/j.scr.2019.101565
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发表时间：
2019
影响因子：
1.2
通讯作者：
Gai Zhongtao
中科院分区：
文献类型：
--
作者：
Zhang Haiyan;Ma Yanyan;Yan Beibei;Yang Xiaomeng;Li Yue;Guan Jingyun;Dong Rui;Liu Yi;Gai Zhongtao
我们利用附加型载体（EV）重编程系统从1例携带KIT基因杂合突变（c.2447A > T（p.D816V））的肥大细胞增多症新生儿外周血单个核细胞中建立了诱导多能干细胞（iPSC）系。该iPSC细胞系携带KIT基因突变，不含外源基因，核型正常，表达多能性标记，具有分化潜能。
We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese neonate with mastocytosis carrying heterozygous mutation (c.2447A > T (p.D816V)) inKITgene by episomal vector (EV) reprogramming system. This iPSC line carryingKITgene mutation, was free of exogenous gene, showed a normal karyotype, expressed pluripotency markers and exhibited differentiation potential.