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Cellosaurus NUIGi007-B (CVCL_WS94)

[Text version]
Cell line name NUIGi007-B
Synonyms LQTS006C8; LQT006C8
Accession CVCL_WS94
Resource Identification Initiative To cite this cell line use: NUIGi007-B (RRID:CVCL_WS94)
Comments From: National University of Ireland Galway; Galway; Ireland.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Ser566Tyr (c.1697C>A) (p.Ser439Tyr, c.1316C>A); ClinVar=VCV000053005; Zygosity=Heterozygous (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_WS93 ! NUIGi007-A
Sex of cell Male
Age at sampling 42Y
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; NUIGi007-B
Biological sample resources BioSamples; SAMEA5912496
Encyclopedic resources Wikidata; Q98128137
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number9