Cellosaurus cell line SCVIi060-A (CVCL

Cross-references
Cell line name	SCVIi060-A
Synonyms	SCVi2506
Accession	CVCL_C1S7
Resource Identification Initiative	To cite this cell line use: SCVIi060-A (RRID:CVCL_C1S7)
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:3756; FLNC; Simple; p.Asp1249Asn (c.3745G>A); ClinVar=VCV000539405; 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	35Y
Category	Induced pluripotent stem cell
Publications	PubMed=36194907; DOI=10.1016/j.scr.2022.102928; PMCID=PMC10871033 Kojic A., Kim H., Guevara J.V., Ravada S., Sallam K., Wu J.C. 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; SCVIi060-A
Biological sample resources	BioSamples; SAMEA110696403
Encyclopedic resources	Wikidata; Q114312974
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6