Cellosaurus cell line SCVIi049-A (CVCL

Cross-references
Cell line name	SCVIi049-A
Synonyms	SCVI-104; SCVI 104; SCVI104
Accession	CVCL_B7SI
Resource Identification Initiative	To cite this cell line use: SCVIi049-A (RRID:CVCL_B7SI)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9080; PLN; Simple; p.Arg9Cys (c.25C>T); ClinVar=VCV000013636; Zygosity=Heterozygous (PubMed=35853412).
Disease	Dilated cardiomyopathy-1P (NCIt: C173625) Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	44Y
Category	Induced pluripotent stem cell
Publications	PubMed=35853412; DOI=10.1016/j.scr.2022.102855; PMCID=PMC9681708 Arianne Caudal, Gema Mondejar-Parreno, Carlos D. Vera, Damon R. Williams, Sushma P. Shenoy, David Liang, Joseph C. Wu; Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients. Stem Cell Res. 63:102855-102855(2022)
Cell line databases/resources	hPSCreg; SCVIi049-A
Biological sample resources	BioSamples; SAMEA14322389
Encyclopedic resources	Wikidata; Q112930366
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5