Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)
Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line XXMUFAi001-A using non-integrative Sendai reprogramming technology from an individual carrying a heterozygous point mutation (c.2690 A>C) in KCNH2. XXMUFAi001-A cell line exhibited expression of pluripotency markers and demonstrated teratoma formation capability in vivo, as well as the potential to differentiate into all three germ layers. The establishment of XXMUFAi001-A is crucial for investigating the pathogenesis and drug screening of LQT2.
Authors
- Zhenling Zhang
- Junbiao Zhang (ORCID: https://orcid.org/0000-0002-7571-1099)
- Peicheng Li (ORCID: https://orcid.org/0000-0002-2056-5506)
- Yiming Niu (ORCID: https://orcid.org/0000-0002-5683-1781)
- H. Liu (ORCID: https://orcid.org/0000-0003-0186-900X)
- Feng‐Hua Lv (ORCID: https://orcid.org/0000-0002-6013-2262)
- Shuai Zhang (ORCID: https://orcid.org/0000-0002-7876-5578)
- Yuxuan Li (ORCID: https://orcid.org/0009-0006-3155-1886)
- Xiaofeng Wang (ORCID: https://orcid.org/0000-0003-0750-8360)
- Yongchun Zhang (ORCID: https://orcid.org/0009-0009-9949-0604)
- Zhenping Fan
- Pu Di
- Xiaolei Li (ORCID: https://orcid.org/0000-0001-5143-1810)
Institutions
- Capital Medical University (CN)
- First Affiliated Hospital of Xinxiang Medical University (CN)
- Beijing Anzhen Hospital (CN)
- Henan Medical University (CN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1016/j.scr.2024.103635
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China