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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.

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).

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Mura M,Ginevrino M,Zappatore R,Pisano F,Boni M,Castelletti S,Crotti L,Valente EM,Schwartz PJ,Gnecchi M

doi

10.1016/j.scr.2018.04.003

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

170-173

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(18)30103-X

journal_volume

29

pub_type

杂志文章

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