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 Caudal A., Mondejar-Parreno G., Vera C.D., Williams D.R., Shenoy S.P., Liang D., Wu J.C. 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