Cellosaurus cell line SCVIi110-A (CVCL

Cross-references
Cell line name	SCVIi110-A
Synonyms	SCVI-340; SCVI 340; SCVI340
Accession	CVCL_D6LS
Resource Identification Initiative	To cite this cell line use: SCVIi110-A (RRID:CVCL_D6LS)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Ala344Val (c.1031C>T); ClinVar=VCV000052936; Zygosity=Heterozygous (PubMed=38763038).
Disease	Long QT syndrome 1 (NCIt: C85049) Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	47Y
Category	Induced pluripotent stem cell
Publications	PubMed=38763038; DOI=10.1016/j.scr.2024.103443; PMCID=PMC11365511 Lu Ren, James Won Suk Jahng, Nadjet Belbachir, Zachary Cook, Gabriela Canel-Rivero, Marco V. Perez, Joseph C. Wu; Generation of induced pluripotent stem cell lines from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene. Stem Cell Res. 78:103443-103443(2024)
Cell line databases/resources	hPSCreg; SCVIi110-A
Biological sample resources	BioSamples; SAMEA115429266
Encyclopedic resources	Wikidata; Q127384244
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3