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Cellosaurus SCVIi018-A (CVCL_B0PK)

[Text version]

Cell line name SCVIi018-A
Synonyms SCVI-433; SCVI433
Accession CVCL_B0PK
Resource Identification Initiative To cite this cell line use: SCVIi018-A (RRID:CVCL_B0PK)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 11947; TNNI3; Simple; p.Arg204Cys (c.610C>T); ClinVar=VCV000177631; Zygosity=Heterozygous (PubMed=34798544).
Disease Familial hypertrophic cardiomyopathy type 7 (NCIt: C184989)
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 23Y
Category Induced pluripotent stem cell

PubMed=34798544; DOI=10.1016/j.scr.2021.102597
Zhao S.R., Shen M.-C., Lee C., Zha Y.-J., Guevara J.V., Wheeler M.T., Wu J.C.
Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying TNNI3 mutations.
Stem Cell Res. 57:102597-102597(2021)

Cell line databases/resources hPSCreg; SCVIi018-A
Encyclopedic resources Wikidata; Q108821283
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2