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

Publication date: Available online 21 October 2019Source: Stem Cell ResearchAuthor(s): Haiyan Zhang, Yanyan Ma, Shujuan Yu, Xiaomeng Yang, Yue Li, Jingyun Guan, Rui Dong, Zhongtao Gai, Yi LiuAbstractWe 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research