| 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
Richard Paul Davis, Simona Casini, Cathelijne W. van den Berg, Maaike Hoekstra, Carol Ann Remme, Cheryl Dambrot, Daniela C.F. Salvatori, Dorien Ward-van Oostwaard, Arthur A.M. Wilde, Connie R. Bezzina, Arie O. Verkerk ...Show all 13 authors... , Christian M.A.H. Freund, Christine Lindsay Mummery; Show fewer authors
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
Christiaan C. Veerman, Isabella Mengarelli, Kao-Mei Guan, Michael Stauske, Julien Barc, Hanno L. Tan, Arthur A.M. Wilde, Arie O. Verkerk, Connie R. Bezzina;
hiPSC-derived cardiomyocytes from Brugada syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities.
Sci. Rep. 6:30967.1-30967.10(2016) |
|---|
| Cross-references |
|---|
| Encyclopedic resources |
Wikidata; Q105509709
|
|---|
| Entry history |
|---|
| Entry creation | 12-Jan-2021 |
|---|
| Last entry update | 19-Dec-2024 |
|---|
| Version number | 6 |
|---|
