Cellosaurus cell line SCVIi017-A (CVCL

Cross-references
Cell line name	SCVIi017-A
Synonyms	SCVI-239; SCVI 239; SCVI239
Accession	CVCL_B0PJ
Resource Identification Initiative	To cite this cell line use: SCVIi017-A (RRID:CVCL_B0PJ)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:11947; TNNI3; Simple; p.Arg145Trp (c.433C>T); ClinVar=VCV000012426; 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	Female
Age at sampling	43Y
Category	Induced pluripotent stem cell
Publications	PubMed=34798544; DOI=10.1016/j.scr.2021.102597; PMCID=PMC9095754 Shane Rui Zhao, Meng-Cheng Shen, Chelsea Lee, Yan-Jun Zha, Julio Vicente Guevara, Matthew T. Wheeler, Joseph C. Wu; 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; SCVIi017-A
Encyclopedic resources	Wikidata; Q108821282
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5