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

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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).

Original languageEnglish
Pages (from-to)157-161
Number of pages5
JournalStem Cell Research
Volume29
DOIs
Publication statusPublished - May 2018

Keywords

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

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