Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene

Stem Cell Res. 2018 May:29:157-161. doi: 10.1016/j.scr.2018.04.002. Epub 2018 Apr 7.

Abstract

We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).

MeSH terms

  • Amino Acid Substitution
  • Cell Line
  • Child
  • Female
  • Heterozygote*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Induced Pluripotent Stem Cells* / pathology
  • Jervell-Lange Nielsen Syndrome* / genetics
  • Jervell-Lange Nielsen Syndrome* / metabolism
  • Jervell-Lange Nielsen Syndrome* / pathology
  • KCNQ1 Potassium Channel / genetics*
  • Kruppel-Like Factor 4
  • Mutation, Missense*

Substances

  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human
  • KLF4 protein, human
  • Kruppel-Like Factor 4