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Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene.

Stem cell research - 1 Dec 2019

Zhang Haiyan, Ma Yanyan, Yu Shujuan, Yang Xiaomeng, Li Yue, Guan Jingyun, Dong Rui, Gai Zhongtao, Liu Yi

Abstract excerpt

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)) in PAX6 gene. Non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line showed normal...

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PMID: 31707209
DOI: 10.1016/j.scr.2019.101611

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Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene.PMID 31707209Read ↗

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