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Cellosaurus NUIGi012-A (CVCL_WU31)

[Text version]
Cell line name NUIGi012-A
Synonyms LQT011C8
Accession CVCL_WU31
Resource Identification Initiative To cite this cell line use: NUIGi012-A (RRID:CVCL_WU31)
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; 6251; KCNH2; Simple; p.Ala614Val (c.1841C>T); ClinVar=VCV000029777; Zygosity=Heterozygous (PubMed=34628246).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=34628246; DOI=10.1016/j.scr.2021.102555
Liu M., Ge N., Zhang J.-H., Yang M.-M., Yang F., Krawczyk J., Ward D., McInerney V., O'Brien T., Shen S.-B., Prendiville T.
Derivation and characterization of two human induced pluripotent stem cell lines (NUIGi004-A) and (NUIGi012-A) from two patients with LQT2 disease.
Stem Cell Res. 56:102555-102555(2021)

Cross-references
Cell line databases/resources hPSCreg; NUIGi012-A
Biological sample resources BioSamples; SAMEA9653365
Encyclopedic resources Wikidata; Q98128152
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number7