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 Zehra Yildirim, Ana Kojic, Christopher D. Yan, Matthew A. Wu, Randall Vagelos, Joseph C. Wu; 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