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Title: Generation of human induced pluripotent stem cell line carrying SCN5AC2204>T Brugada mutation (MUSli009-A-1) introduced by CRISPR/Cas9-mediated genome editing
Authors: Paweorn Angsutararux
Sudjit Luanpitpong
Pimjai Chingsuwanrote
Kantpitchar Supraditaporn
Supaporn Waeteekul
Papussorn Terbto
Chanchao Lorthongpanich
Chuti Laowtammathron
Yaowalak U-Pratya
Surapol Issaragrisil
Faculty of Medicine, Siriraj Hospital, Mahidol University
Wattanosoth Hospital
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Dec-2019
Citation: Stem Cell Research. Vol.41, (2019)
Abstract: © 2019 The Author(s) 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.
ISSN: 18767753
Appears in Collections:Scopus 2019

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