从患有肥大细胞增多症且KIT基因携带杂合突变的患者中建立人诱导多能干细胞系（SDQLCHi005-A）。
Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene.
作者信息
Zhang Haiyan, Ma Yanyan, Yan Beibei, Yang Xiaomeng, Li Yue, Guan Jingyun, Dong Rui, Liu Yi, Gai Zhongtao
机构信息
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Neonatal Department, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, China.
出版信息
Stem Cell Res. 2019 Oct;40:101565. doi: 10.1016/j.scr.2019.101565. Epub 2019 Sep 6.
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)) in KIT gene by episomal vector (EV) reprogramming system. This iPSC line carrying KIT gene mutation, was free of exogenous gene, showed a normal karyotype, expressed pluripotency markers and exhibited differentiation potential.
我们通过游离型载体（EV）重编程系统，从一名患有肥大细胞增多症的中国新生儿外周血单个核细胞中建立了诱导多能干细胞（iPSC）系，该新生儿的KIT基因存在杂合突变（c.2447A > T (p.D816V)）。该携带KIT基因突变的iPSC系不含外源基因，核型正常，表达多能性标志物并具有分化潜能。
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