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

Stem Cell Res. 2019 Dec:41:101611. doi: 10.1016/j.scr.2019.101611. Epub 2019 Oct 21.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line / pathology*
  • Child, Preschool
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Kruppel-Like Factor 4
  • Male
  • Mice
  • Mutation / genetics*
  • Optic Nerve / abnormalities*
  • PAX6 Transcription Factor / genetics*

Substances

  • KLF4 protein, human
  • Klf4 protein, mouse
  • Kruppel-Like Factor 4
  • PAX6 Transcription Factor
  • PAX6 protein, human