Cellosaurus cell line SCVIi020-A (CVCL

Cross-references
Cell line name	SCVIi020-A
Synonyms	SCVI-466; SCVI 466; SCVI466
Accession	CVCL_B5FR
Resource Identification Initiative	To cite this cell line use: SCVIi020-A (RRID:CVCL_B5FR)
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:6636; LMNA; Simple; p.Arg377Cys (c.1129C>T); ClinVar=VCV000048031; Zygosity=Heterozygous (PubMed=34954454).
Disease	Dilated cardiomyopathy-1A (NCIt: C165596) Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORDO: Orphanet_300751)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	59Y
Category	Induced pluripotent stem cell
Publications	PubMed=34954454; DOI=10.1016/j.scr.2021.102638; PMCID=PMC9436418 Lee C., Cho S., Lai C., Shenoy S.P., Vagelos R., Wu J.C. Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant. Stem Cell Res. 59:102638-102638(2022)
Cell line databases/resources	hPSCreg; SCVIi020-A
Encyclopedic resources	Wikidata; Q110433205
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5