Cellosaurus cell line SCVIi059-A (CVCL

Cross-references
Cell line name	SCVIi059-A
Synonyms	SCVIi2413
Accession	CVCL_C1S6
Resource Identification Initiative	To cite this cell line use: SCVIi059-A (RRID:CVCL_C1S6)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Asian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3756; FLNC; Simple; p.Arg2230His (c.6689G>A); ClinVar=VCV000567146; Zygosity=Heterozygous (PubMed=36194907).
Disease	Dilated cardiomyopathy (NCIt: C84673) Dilated cardiomyopathy (ORDO: Orphanet_217604)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	31Y
Category	Induced pluripotent stem cell
Publications	PubMed=36194907; DOI=10.1016/j.scr.2022.102928; PMCID=PMC10871033 Ana Kojic, Hobin Kim, Julio Vicente Guevara, Sai Ravada, Karim Sallam, Joseph C. Wu; Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying heterozygous FLNC mutations. Stem Cell Res. 64:102928-102928(2022)
Cell line databases/resources	hPSCreg; SCVIi059-A
Biological sample resources	BioSamples; SAMEA110696402
Encyclopedic resources	Wikidata; Q114312973
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6