Cellosaurus cell line SCVIi077-A (CVCL

Cross-references
Cell line name	SCVIi077-A
Accession	CVCL_C7YF
Resource Identification Initiative	To cite this cell line use: SCVIi077-A (RRID:CVCL_C7YF)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Latino or Hispanic. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Lys34Gln (c.100A>C); ClinVar=VCV000235050; Zygosity=Heterozygous (PubMed=37210947).
Disease	Catecholaminergic polymorphic ventricular tachycardia type 1 (NCIt: C123414) Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	24Y
Category	Induced pluripotent stem cell
Publications	PubMed=37210947; DOI=10.1016/j.scr.2023.103111; PMCID=PMC11059235 Xiao-Hui Kong, Nadjet Belbachir, Wen-Shu Zeng, Christopher D. Yan, Sai Navada, Marco V. Perez, Joseph C. Wu; Generation of two induced pluripotent stem cell lines from catecholaminergic polymorphic ventricular tachycardia patients carrying RYR2 mutations. Stem Cell Res. 69:103111-103111(2023)
Cell line databases/resources	hPSCreg; SCVIi077-A
Biological sample resources	BioSamples; SAMEA114260323
Encyclopedic resources	Wikidata; Q123033417
Entry history
Entry creation	29-Jun-2023
Last entry update	19-Dec-2024
Version number	4