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Cellosaurus iSCN5A (CVCL_A4LH)

[Text version]
Cell line name iSCN5A
Accession CVCL_A4LH
Resource Identification Initiative To cite this cell line use: iSCN5A (RRID:CVCL_A4LH)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Glu1795_Ile1796insAsp (c.5382_5384dupTGA) (1795insD); ClinVar=VCV000009382; Zygosity=Unspecified (PubMed=22647976).
Disease Brugada syndrome (NCIt: C142891)
Long QT syndrome 3 (NCIt: C137959)
Brugada syndrome (ORDO: Orphanet_130)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Induced pluripotent stem cell
Publications

PubMed=22647976; DOI=10.1161/CIRCULATIONAHA.111.066092
Davis R.P., Casini S., van den Berg C.W., Hoekstra M., Remme C.A., Dambrot C., Salvatori D.C.F., Ward-van Oostwaard D., Wilde A.A.M., Bezzina C.R., Verkerk A.O., Freund C.M.A.H., Mummery C.L.
Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease.
Circulation 125:3079-3091(2012)

PubMed=27485484; DOI=10.1038/srep30967; PMCID=PMC4971529
Veerman C.C., Mengarelli I., Guan K.-M., Stauske M., Barc J., Tan H.L., Wilde A.A.M., Verkerk A.O., Bezzina C.R.
hiPSC-derived cardiomyocytes from Brugada syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities.
Sci. Rep. 6:30967-30967(2016)

Cross-references
Encyclopedic resources Wikidata; Q105509709
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6