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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
Stem Cell Research ( IF 1.2 ) Pub Date : 2020-12-28 , DOI: 10.1016/j.scr.2020.102147
Xiaomeng Yang 1 , Chunhong Duan 2 , Haiyan Zhang 1 , Yue Li 1 , Jingyun Guan 1 , Dong Wang 1 , Yuqiang Lv 1 , Zhongtao Gai 1 , Yi Liu 1
Affiliation  

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.



中文翻译:

Xhr25微复制综合征患者在chrXq25处携带1.3 Mb半合子复制的非整合iPS细胞系(SDQLCHi023-A)的建立

Xq25微复制综合征是一种公认​​的综合征,具有智力残疾和独特的面部外观。我们从一个8岁的Xq25微复制综合征的男孩的外周血单核细胞(PBMC)生成了诱导多能干细胞(iPSC)系,该综合征在chrXq25携带1.3 Mb的半合子复制。iPSCs表达多能性标记,不含基因组整合的附加型质粒,在体外具有正常的核型和三层分化潜能。

更新日期:2021-01-24
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