Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation
Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in the KCNH2 gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death. We derived induced pluripotent stem cell line from PBMC of LQT2 patient carryi...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124002903 |
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| author | Dasom Mun Ji-Young Kang Malgeum Park Gyeongseo Yoo Hyoeun Kim Nuri Yun You Mi Hwang Boyoung Joung |
| author_facet | Dasom Mun Ji-Young Kang Malgeum Park Gyeongseo Yoo Hyoeun Kim Nuri Yun You Mi Hwang Boyoung Joung |
| author_sort | Dasom Mun |
| collection | DOAJ |
| description | Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in the KCNH2 gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death. We derived induced pluripotent stem cell line from PBMC of LQT2 patient carrying a variant of pathogenic variant (c.157G > A; p.Gly53Ser). The generation of iPSC lines was achieved using the non-integrative Sendai virus-mediated iPSC reprogramming method. The iPSC cell line exhibit pluripotency, normal karyotype, stem cell morphology, and differentiation capability, resulting a reliable cell source to study the effects of KCNH2 mutation in disease-specific cell types. |
| format | Article |
| id | doaj-art-eff471611fdb4b298b86d7cf4a3f0d1a |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-eff471611fdb4b298b86d7cf4a3f0d1a2024-12-13T10:56:55ZengElsevierStem Cell Research1873-50612024-12-0181103592Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutationDasom Mun0Ji-Young Kang1Malgeum Park2Gyeongseo Yoo3Hyoeun Kim4Nuri Yun5You Mi Hwang6Boyoung Joung7Division of Cardiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Republic of KoreaDivision of Cardiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Republic of KoreaDivision of Cardiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Republic of KoreaDivision of Cardiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Republic of KoreaDepartment of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Republic of KoreaGNTPharma Science and Technology Center for Health, 85 Songdogwahak-ro, Yeonsu-gu, Incheon 21983, Republic of KoreaDepartment of Cardiology, St. Vincent’s Hospital, The Catholic University of Korea, 93 Jungbu-daero, Paldal-gu, Suwon 16247, Republic of Korea; Catholic Research Institute for Intractable Cardiovascular Disease (CRID), College of Medicine, The Catholic University of Korea, 93 Jungbu-daero, Paldal-gu, Suwon 16247, Republic of KoreaDivision of Cardiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Republic of Korea; Corresponding author.Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in the KCNH2 gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death. We derived induced pluripotent stem cell line from PBMC of LQT2 patient carrying a variant of pathogenic variant (c.157G > A; p.Gly53Ser). The generation of iPSC lines was achieved using the non-integrative Sendai virus-mediated iPSC reprogramming method. The iPSC cell line exhibit pluripotency, normal karyotype, stem cell morphology, and differentiation capability, resulting a reliable cell source to study the effects of KCNH2 mutation in disease-specific cell types.http://www.sciencedirect.com/science/article/pii/S1873506124002903 |
| spellingShingle | Dasom Mun Ji-Young Kang Malgeum Park Gyeongseo Yoo Hyoeun Kim Nuri Yun You Mi Hwang Boyoung Joung Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation Stem Cell Research |
| title | Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation |
| title_full | Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation |
| title_fullStr | Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation |
| title_full_unstemmed | Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation |
| title_short | Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation |
| title_sort | establishment of a human induced pluripotent stem cell line from a long qt syndrome type 2 patient harboring a kcnh2 mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124002903 |
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