Cellosaurus cell line NUIGi012-A (CVCL

Cross-references
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; 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 Min Liu, Ning Ge, Jian-Hua Zhang, Mei-Mei Yang, Fan Yang, Janusz Krawczyk, Deirdre Ward, Veronica McInerney, Timothy O'Brien, San-Bing Shen, Terence Prendiville; 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; NUIGi012-A
Biological sample resources	BioSamples; SAMEA9653365
Encyclopedic resources	Wikidata; Q98128152
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	8