Cellosaurus cell line NUIGi004-A (CVCL

Cross-references
Cell line name	NUIGi004-A
Synonyms	LQT003C1
Accession	CVCL_WU50
Resource Identification Initiative	To cite this cell line use: NUIGi004-A (RRID:CVCL_WU50)
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:6251; KCNH2; Simple; p.Val822Met (c.2464G>A); ClinVar=VCV000014424; 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	58Y
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)
Cell line databases/resources	hPSCreg; NUIGi004-A
Biological sample resources	BioSamples; SAMEA9334969
Encyclopedic resources	Wikidata; Q98128127
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	8