Publication: Generation of human induced pluripotent stem cell line carrying SCN5AC2204>T Brugada mutation (MUSli009-A-1) introduced by CRISPR/Cas9-mediated genome editing
Issued Date
2019-12-01
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ISSN
18767753
18735061
18735061
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2-s2.0-85074154497
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Mahidol University
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SCOPUS
Bibliographic Citation
Stem Cell Research. Vol.41, (2019)
Suggested Citation
Paweorn Angsutararux, Sudjit Luanpitpong, Pimjai Chingsuwanrote, Kantpitchar Supraditaporn, Supaporn Waeteekul, Papussorn Terbto, Chanchao Lorthongpanich, Chuti Laowtammathron, Yaowalak U-Pratya, Surapol Issaragrisil Generation of human induced pluripotent stem cell line carrying SCN5AC2204>T Brugada mutation (MUSli009-A-1) introduced by CRISPR/Cas9-mediated genome editing. Stem Cell Research. Vol.41, (2019). doi:10.1016/j.scr.2019.101618 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/50006
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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
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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.