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Cellosaurus SCVIi041-A (CVCL_B5Q3)

[Text version]
Cell line name SCVIi041-A
Accession CVCL_B5Q3
Resource Identification Initiative To cite this cell line use: SCVIi041-A (RRID:CVCL_B5Q3)
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.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 Female
Age at sampling 48Y
Category Induced pluripotent stem cell
Publications

PubMed=34999423; DOI=10.1016/j.scr.2022.102657
Cho S., Lee C., Lai C., Zhuge Y., Haddad F., Fowler M., Sallam K., Wu J.C.
Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients.
Stem Cell Res. 59:102657-102657(2022)

Cross-references
Cell line databases/resources hPSCreg; SCVIi041-A
Encyclopedic resources Wikidata; Q112044533
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number4