DOAJ Open Access 2024

Establishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation

Dasom Mun Gyeongseo Yoo Malgeum Park Ji-Young Kang Nuri Yun +1 lainnya

Abstrak

Long QT syndrome type 1 (LQT1) is a rare heart disorder caused by a loss-of-function mutation in the KCNQ1 gene that causes loss of Kv7.1 channel function, which can lead to Palpitations, Syncope, and Sudden cardiac arrest. We derived induced pluripotent stem cells from PBMC of LQT1 patients carrying a pathogenic variant (c.734G>A; p.Gly245Glu). The non-integrative Sendai virus-mediated iPSC reprogramming method was used for iPSC line generation. These iPSC cell lines exhibit stem cell pluripotency, differentiation capability, and cell morphology, resulting in a reliable cell source to study the effects of KCNQ1 mutation in disease-specific cell types.

Topik & Kata Kunci

Biology (General)

Penulis (6)

Dasom Mun

Gyeongseo Yoo

Malgeum Park

Ji-Young Kang

Nuri Yun

Boyoung Joung

Format Sitasi

APA MLA BibTeX

Mun, D., Yoo, G., Park, M., Kang, J., Yun, N., Joung, B. (2024). Establishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation. https://doi.org/10.1016/j.scr.2024.103571

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Informasi Jurnal

Tahun Terbit: 2024
Sumber Database: DOAJ
DOI: 10.1016/j.scr.2024.103571
Akses: Open Access ✓