Generation of human induced pluripotent stem cell line carrying SCN5AC2204>T Brugada mutation (MUSli009-A-1) introduced by CRISPR/Cas9-mediated genome editing


Human induced pluripotent stem cells (hiPSCs) derived from dermal fibroblasts having wild type (WT) SCN5A were engineered by CRISPR/Cas9-mediated genome editing to harbor a specific point mutation (C2204>T) in SCN5A, which results in a substitution of the WT alanine by valine at codon 735 (A735V). The established MUSli009-A-1 hiPSC line has a homozygous C2204>T mutation on exon 14 of SCN5A that was confirmed by DNA sequencing analysis. The cells exhibited normal karyotype, expressed pluripotent markers and retained its capability to differentiate into three germ layers. The cardiomyocytes derived from this line would be a useful model for investigating cardiac channelopathy. Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Angsutararux P, Luanpitpong S, Chingsuwanrote P, Supraditaporn K, Waeteekul S, Terbto P, Lorthongpanich C, Laowtammathron C, U-Pratya Y, Issaragrisil S
Journal Stem cell research
Publication Date 2019 Dec;41:101618
PubMed 31677524
DOI 10.1016/j.scr.2019.101618

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