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

从患有 Xq25 微重复综合征且在 chrXq25 处携带 1.3 Mb 半合子重复的患者体内建立非整合 iPS 细胞系 (SDQLCHi023-A)

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作者:Xiaomeng Yang, Chunhong Duan, Haiyan Zhang, Yue Li, Jingyun Guan, Dong Wang, Yuqiang Lv, Zhongtao Gai, Yi Liu

Abstract

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.

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