For research use only
| Cat No. | ABC-SC2054 |
| Product Type | Human iPSCs |
| Cell Type | Induced Pluripotent Stem Cell |
| Species | Human |
| Growth Conditions | 37 ℃, 5% CO2 |
| Source Organ | Fibroblast |
| Disease | Long QT Syndrome 3 |
| Storage | Liquid Nitrogen |
Utilize HighQC™ Human IPSC From Fibroblast-Long QT Syndrome 3 for cardiac electrophysiology research, arrhythmia modeling, and drug safety evaluation.
Long QT Syndrome 3; LQT3
SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; Subcollection: Heritable Diseases; Affected: YES; Cells are only guaranteed with purchase of AcceGen Media and AcceGen Extra Cellular Matrix for appropriate cell culture, for 30 days from the date of shipment.
| Species | Human |
| Cat.No | ABC-SC2054 |
| 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 3 |
| Storage | Liquid Nitrogen |
| Product Type | Human iPSCs |
| Gene Info | Gene: SCN5A; Mutation: ASN406LYS |
For research use only
When you publish your research, please cite our product as "AcceGen Biotech Cat.# XXX-0000". In return, we’ll give you a $100 coupon. Simply click here and submit your paper’s PubMed ID (PMID).
Sequencing revealed a de novo missense mutation in exon 10 of the SCN5A gene (1218C>A), located at chromosomal region 3p22.2. The identified mutation is ASN406LYS (N406K), a novel pathogenic variant situated in the IS6 region of the transmembrane-spanning domain of the NaV1.5 cardiac sodium channel encoded by SCN5A.