Cellosaurus logo
expasy logo

Cellosaurus SCVIi002-A (CVCL_A5FV)

[Text][XML][JSON]
Cell line name SCVIi002-A
Synonyms SCVI-591; SCVI 591; SCVI591
Accession CVCL_A5FV
Resource Identification Initiative To cite this cell line use: SCVIi002-A (RRID:CVCL_A5FV)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7551; MYBPC3; Simple; c.3330+2T>G; ClinVar=VCV000008621; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33743363).
Disease Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725)
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 24Y
Category Induced pluripotent stem cell
Publications

PubMed=33743363; DOI=10.1016/j.scr.2021.102279; PMCID=PMC9393020
Li-Chao Liu, Sushma P. Shenoy, James Won Suk Jahng, Yu Liu, Joshua Wiley Knowles, Yan Zhuge, Joseph C. Wu;
Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy.
Stem Cell Res. 53:102279-102279(2021)

Cross-references
Cell line databases/resources hPSCreg; SCVIi002-A
Encyclopedic resources Wikidata; Q107116870
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5