We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51 years 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).

Mura, M., Ginevrino, M., Zappatore, R., Pisano, F., Boni, M., Castelletti, S., et al. (2018). 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. STEM CELL RESEARCH, 29, 170-173 [10.1016/j.scr.2018.04.003].

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

Crotti, L;
2018

Abstract

We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51 years 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).
Articolo in rivista - Articolo scientifico
human induced pluripotent stem cell, long QT syndrome, recessive form, KCNQ1, fibroblasts
English
2018
29
170
173
reserved
Mura, M., Ginevrino, M., Zappatore, R., Pisano, F., Boni, M., Castelletti, S., et al. (2018). 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. STEM CELL RESEARCH, 29, 170-173 [10.1016/j.scr.2018.04.003].
File in questo prodotto:
File Dimensione Formato  
Mura 2018 Stem Cell Research 1.pdf

Solo gestori archivio

Dimensione 1.23 MB
Formato Adobe PDF
1.23 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/197420
Citazioni
  • Scopus 6
  • ???jsp.display-item.citation.isi??? 6
Social impact