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Cellosaurus NUIGi011-C (CVCL_WT07)

[Text version]

Cell line name NUIGi011-C
Synonyms LQTS010Cx
Accession CVCL_WT07
Resource Identification Initiative To cite this cell line use: NUIGi011-C (RRID:CVCL_WT07)
Comments From: National University of Ireland Galway; Galway; Ireland.
Derived from sampling site: Skin; dermis.
Sequence variations Heterozygous for KCNQ1 p.Arg401Profs (c.1201dupC) (p.Arg274Profs; c.820dupC) (ClinVar=VCV000052972) (PubMed=31765965).
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_WT05 ! NUIGi011-A
CVCL_WT06 ! NUIGi011-B
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=31765965; DOI=10.1016/j.scr.2019.101650
Ge N., Liu M., Ding Y., Krawczyk J., McInerney V., Galvin J., Shen S., Prendiville T., O'Brien T.
Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation.
Stem Cell Res. 41:101650-101650(2019)

Cross-references
Cell line databases/resources hPSCreg; NUIGi011-C
Biological sample resources BioSamples; SAMEA5912508
Other Wikidata; Q98128151
Entry history
Entry creation05-Jul-2019
Last entry update29-Oct-2020
Version number4