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Cellosaurus ICGi029-A (CVCL_A5VV)

[Text version]
Cell line name ICGi029-A
Synonyms HCM14fm6.2
Accession CVCL_A5VV
Resource Identification Initiative To cite this cell line use: ICGi029-A (RRID:CVCL_A5VV)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7551; MYBPC3; Simple; p.Asn515del (c.1543_1545delAAC); ClinVar=VCV000181070; Zygosity=Heterozygous (PubMed=33892289).
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 65Y
Category Induced pluripotent stem cell
Publications

PubMed=33892289; DOI=10.1016/j.scr.2021.102344
Dementyeva E.V., Pavlova S.V., Chernyavsky A.M., Zakian S.M.
Generation of an induced pluripotent stem cell line, ICGi029-A, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.N515del mutation in MYBPC3.
Stem Cell Res. 53:102344-102344(2021)

Cross-references
Cell line databases/resources hPSCreg; ICGi029-A
Biological sample resources BioSamples; SAMEA8307096
Encyclopedic resources Wikidata; Q107115426
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4