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Cellosaurus SCVIi020-A (CVCL_B5FR)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; SCVIi020-A
Encyclopedic resources Wikidata; Q110433205
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4