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Cellosaurus NUIGi010-C (CVCL_WT04)

[Text version]
Cell line name NUIGi010-C
Synonyms LQTS009Cx
Accession CVCL_WT04
Resource Identification Initiative To cite this cell line use: NUIGi010-C (RRID:CVCL_WT04)
Comments From: National University of Ireland Galway; Galway; Ireland.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg401Profs*62 (c.1201dupC) (p.Arg274Profs, c.820dupC); ClinVar=VCV000052972; Zygosity=Heterozygous (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_WT02 ! NUIGi010-A
CVCL_WT03 ! NUIGi010-B
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=31765965; DOI=10.1016/j.scr.2019.101650
Ge N., Liu M., Ding Y.-C., Krawczyk J., McInerney V., Galvin J., Shen S.-B., 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; NUIGi010-C
Biological sample resources BioSamples; SAMEA5912505
Encyclopedic resources Wikidata; Q98128147
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number8