Cellosaurus cell line NUIGi003-A (CVCL

Cross-references
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 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=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 Ning Ge, Min Liu, Janusz Krawczyk, Veronica McInerney, Deirdre Ward, San-Bing Shen, Timothy O'Brien, Terence Prendiville; 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)
Cell line databases/resources	hPSCreg; NUIGi003-A
Biological sample resources	BioSamples; SAMEA5945665
Encyclopedic resources	Wikidata; Q98128125
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	9