Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene
Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene
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从携带 PAX6 基因杂合突变的视神经畸形患者建立人 iPSC 系 (SDQLCHi010-A)
DOI：
10.1016/j.scr.2019.101611
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发表时间：
2019
影响因子：
1.2
通讯作者：
Yi Liu
中科院分区：
文献类型：
--
作者：
Zhang Haiyan;Ma Yanyan;Yu Shujuan;Yang Xiaomeng;Li Yue;Guan Jingyun;Dong Rui;Gai Zhongtao;Yi Liu
我们从一个4岁的患有视神经畸形和智力残疾的男孩的外周血单个核细胞中分离出一个诱导多能干细胞（iPSC）系（SDQLCHi 010-A），该男孩在PAX 6基因中携带杂合突变（c.220A>G（p.S74G））。将含有0 CT 4、S 0X 2、KLF 4、BCL-XL和MYC的非整合附加型载体用于重编程。所建立的iPSC细胞系核型正常，表达多能性标记，具有体外分化潜能，并保留了peptPAX 6基因突变。
We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) inPAX6gene. Non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line showed normal karyotype, expressed pluripotency markers, exhibited differentiation potential in vitro and keptPAX6gene mutation.