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Stem Cell Res. 2019 Oct 21;41:101611. doi: 10.1016/j.scr.2019.101611. [Epub ahead of print]

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

Author information

1
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong. 250022, China.
2
Department of Ophthalmology, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, China.
3
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong. 250022, China; Department of Ophthalmology, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, China. Electronic address: gaizhongtao@sina.com.
4
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong. 250022, China. Electronic address: y_liu99@sina.com.

Abstract

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 karyotype, expressed pluripotency markers, exhibited differentiation potential in vitro and kept PAX6 gene mutation.

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