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Cellosaurus SCVIi001-A (CVCL_A5FU)

[Text version]
Cell line name SCVIi001-A
Synonyms SCVI-550; SCVI 550; SCVI550
Accession CVCL_A5FU
Resource Identification Initiative To cite this cell line use: SCVIi001-A (RRID:CVCL_A5FU)
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 Male
Age at sampling 60Y
Category Induced pluripotent stem cell
Publications

PubMed=33743363; DOI=10.1016/j.scr.2021.102279; PMCID=PMC9393020
Liu L.-C., Shenoy S.P., Jahng J.W.S., Liu Y., Knowles J.W., Zhuge Y., Wu J.C.
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; SCVIi001-A
Biological sample resources BioSamples; SAMEA7996634
Encyclopedic resources Wikidata; Q107116869
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5