从一名患有Xq25微重复综合征的患者中建立了一个非整合性诱导多能干细胞系（SDQLCHi023-A），该患者在chrXq25处携带一个1.3 Mb的半合子重复。
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
作者信息
Yang Xiaomeng, Duan Chunhong, Zhang Haiyan, Li Yue, Guan Jingyun, Wang Dong, Lv Yuqiang, Gai Zhongtao, Liu Yi
机构信息
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Department of Pediatrics, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
出版信息
Stem Cell Res. 2021 Mar;51:102147. doi: 10.1016/j.scr.2020.102147. Epub 2020 Dec 28.
Xq25 microduplication syndrome is a recognized syndrome presenting intellectual disability and distinctive facial appearance. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of an 8-year-old boy with Xq25 Microduplication Syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25. The iPSCs expressed pluripotency markers, free of genomically integrated episomal plasmids, with normal karyotype and three layers' differentiation potential in vitro.
Xq25微重复综合征是一种公认的综合征，表现为智力残疾和独特的面部外观。我们从一名患有Xq25微重复综合征的8岁男孩的外周血单个核细胞（PBMC）中生成了诱导多能干细胞（iPSC）系，该男孩在chrXq25处携带一个1.3 Mb的半合子重复。这些iPSC表达多能性标志物，无基因组整合的附加体质粒，具有正常的核型，并且在体外具有三层分化潜能。
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