Cellosaurus cell line SCVIi040-A (CVCL

Cross-references
Cell line name	SCVIi040-A
Accession	CVCL_B5Q2
Resource Identification Initiative	To cite this cell line use: SCVIi040-A (RRID:CVCL_B5Q2)
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.Arg133Gln (c.398G>A); ClinVar=VCV000200934; Zygosity=Heterozygous (PubMed=34999423).
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	76Y
Category	Induced pluripotent stem cell
Publications	PubMed=34999423; DOI=10.1016/j.scr.2022.102657; PMCID=PMC9250545 Sangkyun Cho, Chelsea Lee, Celine Lai, Yan Zhuge, Francois Haddad, Michael B. Fowler, Karim Sallam, Joseph C. Wu; Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients. Stem Cell Res. 59:102657-102657(2022)
Cell line databases/resources	hPSCreg; SCVIi040-A
Encyclopedic resources	Wikidata; Q112044532
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	5