A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene

一名患有家族性混合型高脂血症且脂蛋白脂肪酶基因复合杂合突变的男孩的非整合 iPSC 系 (SDQLCHi042-A)

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作者:Zilong Li, Xue Zhang, Xiaomei Li, Yanan Yang, Hongmei Xin, Xiaomeng Yang, Ning Liu, Zhongtao Gai, Yi Liu

Abstract

In this study, peripheral blood monouclear cells (PBMCs) were donated from a boy suffering from familial combined hyperlipidemia confirmed by clinical and genetic diagnosis, which carried compound heterozygous mutations of lipoprotein lipase (LPL) gene. The induced pluripotent stem cell (iPSC) was generated with non-integrated episomal vectors carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The iPSCs presented the morphology of pluripotent cells, highly expressed mRNA and protein of pluripotent markers, excellent differentiation potency in vitro and normal karyotype, and bore LPL gene mutations.

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