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Cellosaurus NUIGi003-A (CVCL_WU63)

[Text version]

Cell line name NUIGi003-A
Synonyms LQT002C1
Accession CVCL_WU63
Resource Identification Initiative To cite this cell line use: NUIGi003-A (RRID:CVCL_WU63)
Comments From: National University of Ireland Galway; Galway; Ireland.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 6251; KCNH2; Simple; p.Val822Met (c.2464G>A); ClinVar=VCV000014424; Zygosity=Heterozygous (PubMed=33002718).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YT11 ! NUIGi003-B
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=33002718; DOI=10.1016/j.scr.2020.101997
Ge N., Liu M., Krawczyk J., McInerney V., Ward D., Shen S.-B., O'Brien T., Prendiville T.
Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464G>A pathogenic variant.
Stem Cell Res. 49:101997-101997(2020)

Cross-references
Cell line databases/resources hPSCreg; NUIGi003-A
Biological sample resources BioSamples; SAMEA5945665
Other Wikidata; Q98128125
Entry history
Entry creation05-Jul-2019
Last entry update20-May-2021
Version number5