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Ge, N;Liu, M;Krawczyk, J;McInerney, V;Galvin, J;Shen, S;O'Brien, T;Prendiville, T
2019
August
Stem Cell Research
Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C > A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B)
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39
Long QT Syndrome type 1 (LQT1), an inherited cardiac ion channelopathy associated with arrhythmias and risk of sudden death, is caused by mutations in KCNQ1 encoding the alpha-subunit of Kv7.1, that affects the slow component of delayed rectifier K+ current (I-KS) channel. In this study, the non-integrational Sendai reprogramming method was used to express four Yamanaka factors and to generate induced pluripotent stem cell (iPSC) lines carrying the KCNQ1 c.1697C > A (p.S566Y) mutation from familial LQT1 patients. The patient-specific iPSC lines harbouring the c.1697C > A mutation expressed pluripotency markers and had the capacity to differentiate into three germ layers.
1873-5061
10.1016/j.scr.2019.101502
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