For research use only
| Cat No. | ABC-SC2053 |
| Product Type | Human iPSCs |
| Cell Type | Induced Pluripotent Stem Cell |
| Species | Human |
| Growth Conditions | 37 ℃, 5% CO2 |
| Source Organ | Fibroblast |
| Disease | Long QT Syndrome 2 |
| Storage | Liquid Nitrogen |
Cell Type: iPSC; Disease: Long QT Syndrome 2; LQT2 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2.
HighQC™ Human IPSC From Fibroblast-Long QT Syndrome 2 is a disease-specific induced pluripotent stem cell line derived from dermal fibroblasts of a donor diagnosed with Long QT Syndrome Type 2 (LQT2), a cardiac channelopathy caused by mutations in the KCNH2 gene. The resulting iPSCs (induced pluripotent stem cells) exhibit adherent growth with well-defined borders and a high nucleus-to-cytoplasm ratio. These cells maintain the fundamental capacity for trilineage differentiation into ectoderm, mesoderm, and endoderm derivatives. They harbor LQT2-related channel characteristics, recapitulate cardiac electrophysiological function, and express the core pluripotency marker SSEA-4. The cells undergo rigorous screening and isolation procedures, and are rigorously tested to ensure they are free of contamination from HIV-1, HBV, HCV, Syphilis, Mycoplasma, Fungi, Yeast, and Bacteria.
| Product Code | HighQC™ Human IPSC From Fibroblast-Long QT Syndrome 2, HighQC™ hiPSC LQT2, hiPSC-LQT2, HighQC™ Human Induced Pluripotent Stem Cells From Fibroblast-Long QT Syndrome Type 2 |
| Species | Human |
| Cat.No | ABC-SC2053 |
| Product Category | Stem Cells |
| Size/Quantity | 1 vial |
| Cell Type | Induced Pluripotent Stem Cell |
| Growth Mode | Adherent |
| Shipping Info | Dry Ice |
| Growth Conditions | 37 ℃, 5% CO2 |
| Source Organ | Fibroblast |
| Disease | Long QT Syndrome 2 |
| Storage | Liquid Nitrogen |
| Product Type | Human iPSCs |
| Gene Info | Gene: KCNH2; Mutation: ALA422THR |
HighQC™ Human IPSC From Fibroblast-Long QT Syndrome 2 serves as a patient-specific model for in vitro cardiac developmental and disease studies. Its pluripotent capacity enables directed differentiation into cardiomyocytes, the key cell type affected by KCNH2 mutations. This system is used to model cardiac action potential abnormalities, study arrhythmogenic mechanisms, and perform high-throughput drug screening to assess proarrhythmic risk and identify potential therapeutic compounds for channelopathy research.
When you publish your research, please cite our product as "AcceGen Biotech Cat.# XXX-0000". In return, we’ll give you a $200 coupon. Simply click here and submit your paper’s PubMed ID (PMID).
Sequencing revealed a missense mutation in exon 6 of the KCNH2 (HERG) gene (1264G>A), located at chromosomal region 7q36.1. The identified mutation is ALA422THR, a novel pathogenic variant situated in the S1 region of the transmembrane-spanning domain of the IKr potassium channel α-subunit encoded by KCNH2.