Cellosaurus cell line SCVIi064-A (CVCL

Cross-references
Cell line name	SCVIi064-A
Synonyms	SCVI-2234; SCVI 2234; SCVI2234; SCVIi2234
Accession	CVCL_C1SB
Resource Identification Initiative	To cite this cell line use: SCVIi064-A (RRID:CVCL_C1SB)
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:16882; HCN4; Simple; p.Arg949Gln (c.2846G>A); ClinVar=VCV000933551; Zygosity=Heterozygous (PubMed=36332467).
Disease	Brugada syndrome (NCIt: C142891) Brugada syndrome (ORDO: Orphanet_130)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	44Y
Category	Induced pluripotent stem cell
Publications	PubMed=36332467; DOI=10.1016/j.scr.2022.102951; PMCID=PMC9881502 Yildirim Z., Kojic A., Yan C.D., Wu M.A., Vagelos R., Wu J.C. Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients caused by heterozygous mutations in the HCN4 gene. Stem Cell Res. 65:102951-102951(2022)
Cell line databases/resources	hPSCreg; SCVIi064-A
Encyclopedic resources	Wikidata; Q114312978
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5