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Cellosaurus NUIGi005-A (CVCL_WS87)

[Text version]

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
Ge N., Liu M., Krawczyk J., McInerney V., Galvin J., Shen S.-B., O'Brien T., Prendiville T.
Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B).
Stem Cell Res. 39:101502-101502(2019)

Cross-references
Cell line databases/resources hPSCreg; NUIGi005-A
Biological sample resources BioSamples; SAMEA5728499
Other Wikidata; Q98128128
Entry history
Entry creation05-Jul-2019
Last entry update29-Oct-2020
Version number4