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 Ren L., Jahng J.W.S., Belbachir N., Cook Z., Rivero G.C., Perez M.V., Wu J.C. 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