Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1

Research output: Contribution to journalArticlepeer-review

Abstract

We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51years old female patient homozygous for the mutation c.535 G>A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1), not associated with deafness. The hiPSCs, generated using four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC, are pluripotent and can differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).

Original languageEnglish
Pages (from-to)170-173
Number of pages4
JournalStem Cell Research
Volume29
DOIs
Publication statusPublished - May 2018

Keywords

  • Cell Line
  • Cellular Reprogramming Techniques
  • Female
  • Genes, Recessive
  • Humans
  • Induced Pluripotent Stem Cells/metabolism
  • Middle Aged
  • Romano-Ward Syndrome/genetics
  • Transcription Factors/biosynthesis

Fingerprint Dive into the research topics of 'Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1'. Together they form a unique fingerprint.

Cite this