Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene

Stem Cell Res. 2020 Jan:42:101687. doi: 10.1016/j.scr.2019.101687. Epub 2019 Dec 12.

Abstract

The human induced pluripotent stem cell (iPSC) line YAHKMUi001-A was derived from the dermal fibroblasts of a patient with Tetralogy of Fallot (TOF), with a mutation in the TBX1 gene (c.928G > A). The skin fibroblasts were obtained from a 4-year-old boy, and were infected with Sendai virus expressing the Yamanaka factors. The YAHKMUi001-A iPSC line expresses pluripotent stem cell markers, displays a normal karyotype, and has the capacity to differentiate into 3 germ layers. This cell line model can be a good tool to study the pathological mechanism of the TBX1 gene mutations associated with TOF.

Publication types

  • Case Reports

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Child, Preschool
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Male
  • Mutation
  • T-Box Domain Proteins / metabolism*
  • Tetralogy of Fallot / genetics*

Substances

  • T-Box Domain Proteins
  • TBX1 protein, human