Cell line name | NUIGi005-A |
---|---|
Synonyms | LQTS004C7; LQT004C7 |
Accession | CVCL_WS87 |
Resource Identification Initiative | To cite this cell line use: NUIGi005-A (RRID:CVCL_WS87) |
Comments | From: National University of Ireland Galway; Galway; Ireland. Population: Caucasian. Derived from sampling site: Skin; dermis. |
Sequence variations | Heterozygous for KCNQ1 p.Ser566Tyr (c.1697C>A) (p.Ser439Tyr; c.1316C>A) (ClinVar=VCV000053005) (PubMed=31415974). |
Disease | Long QT syndrome 1 (NCIt: C85049) Romano-Ward syndrome (ORDO: Orphanet_101016) |
Species of origin | Homo sapiens (Human)
(NCBI Taxonomy: 9606)
|
Originate from same individual | CVCL_WS88 ! NUIGi005-B CVCL_WS89 ! NUIGi005-C |
Sex of cell | Female |
Age at sampling | 38Y |
Category | Induced pluripotent stem cell |
Publications | PubMed=31415974; DOI=10.1016/j.scr.2019.101502 |
Cross-references | |
Cell line databases/resources | hPSCreg; NUIGi005-A |
Biological sample resources | BioSamples; SAMEA5728499 |
Other | Wikidata; Q98128128 |
Entry history | |
Entry creation | 05-Jul-2019 |
Last entry update | 29-Oct-2020 |
Version number | 4 |