Powered by BiozNOTE: This cell line contains an expected karyotypic abnormality consistent with the deposited material. Please see the karyotype report in the “Product Information & Testing” PDF(s) linked below for more information.
This edited iPS cell line (rs137854600 (SCN5A c.4865G>T ; p.Arg1622Leu) is a causal variant for Long QT Syndrome Type 3 (LQT3). It can be differentiated into iPSC-derived cardiovascular cells (iPSC-CVPC) for studying LQT3 syndrome, used in drug screens (including in drug induced LQT), and in gene therapy. Additional clone (UCSD243i-LQT3-1) is available from WiCell.
- Unit of Measure (UOM) vial
- Cell Type Modified Human iPS
- Sex Female
- Age at Collection 26 Years
- Ethnicity Information Self-reported
- Reprogramming Method Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
- Tissue Origin Skin Fibroblast
- Genetic Alteration Mutation Information G>T mutation in sodium channel gene
- Genetic Modification Keyword Isogenic; Long QT syndrome
- Disease None reported
- Ethnicity Caucasian > European
- Genetic Alteration Mutation SCN5A
- Pubmed Abstract Silva, Nayara Sousa da et al. Generation of a set of genetically modified long QT syndrome induced pluripotent stem cell lines carrying knock-in variants rs120074178 (KCNQ1 c.569G > A; p.Arg190Gln) and rs137854600 (SCN5A c.4865G > A; p.Arg1622Gln) and isogenic control lines. Stem cell research vol. 87 (2025): 103755. doi:10.1016/j.scr.2025.103755
- Genetically related cell lines Family Pedigree—See "Family 3" for parental lineage
- hPSCReg ID UCSDi001-A-3
- Provider University of California, San Diego - Dr. Kelly Frazer
- Collections NHLBI Next Gen - QT Interval and ECG Cardiac Traits (Dr. Kelly Frazer, University of California San Diego)
| Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Info URL |
| DB68092 | mTeSR1/Matrigel | Provider | 13 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |