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
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). Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
|Authors||Mura M, Ginevrino M, Zappatore R, Pisano F, Boni M, Castelletti S, Crotti L, Valente EM, Schwartz PJ, Gnecchi M|
|Journal||Stem cell research|
|Publication Date||2018 May;29:170-173|