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Cellosaurus SCVIi007-A (CVCL_A7KM)

[Text version]
Cell line name SCVIi007-A
Synonyms SCVI-216; SCVI 216; SCVI216
Accession CVCL_A7KM
Resource Identification Initiative To cite this cell line use: SCVIi007-A (RRID:CVCL_A7KM)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7577; MYH7; Simple; p.Arg1712Gln (c.5135G>A); ClinVar=VCV000036642; Zygosity=Heterozygous (PubMed=34352619).
Disease Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=34352619; DOI=10.1016/j.scr.2021.102455; PMCID=PMC10339835
Cao X., Jahng J.W.S., Lee C., Zha Y.-J., Wheeler M.T., Sallam K., Wu J.C.
Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations.
Stem Cell Res. 55:102455-102455(2021)

Cross-references
Cell line databases/resources hPSCreg; SCVIi007-A
Encyclopedic resources Wikidata; Q107116875
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4