Cellosaurus cell line SCVIi123-A (CVCL

Cross-references
Cell line name	SCVIi123-A
Synonyms	SCVI-2176; SCVI 2176; SCVI2176
Accession	CVCL_E4F5
Resource Identification Initiative	To cite this cell line use: SCVIi123-A (RRID:CVCL_E4F5)
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:10593; SCN5A; Simple; p.Arg222Gln (c.665G>A); ClinVar=VCV000039444; Zygosity=Heterozygous (PubMed=39067410).
Disease	Dilated cardiomyopathy-1E (NCIt: C212862) Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	60-70Y
Category	Induced pluripotent stem cell
Publications	PubMed=39067410; DOI=10.1016/j.scr.2024.103498 Ryan Dexheimer, Amit Manhas, David Wu, Dipti Tripathi, Sze-Yu Chan, Juana Li, Rebecca Yu, Nazish Sayed, Joseph C. Wu, Karim Sallam; Generation of two iPSC lines from dilated cardiomyopathy patients with pathogenic variants in the SCN5A gene. Stem Cell Res. 80:103498-103498(2024)
Cell line databases/resources	hPSCreg; SCVIi123-A
Biological sample resources	BioSamples; SAMEA115580282
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1