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Cellosaurus ICGi022-A-5 (CVCL_D0VQ)

[Text version]
Cell line name ICGi022-A-5
Synonyms K7-MYBPC3-N515del-3
Accession CVCL_D0VQ
Resource Identification Initiative To cite this cell line use: ICGi022-A-5 (RRID:CVCL_D0VQ)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian; Siberian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7551; MYBPC3; Simple_edited; p.Asn515del (c.1543_1545delAAC); ClinVar=VCV000181070; Zygosity=Homozygous; Note=By CRISPR/Cas9 (hPSCreg=ICGi022-A-5).
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)
Hierarchy Parent: CVCL_ZE02 (ICGi022-A)
Sex of cell Female
Age at sampling 42Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; ICGi022-A-5
Biological sample resources BioSamples; SAMEA110676106
Encyclopedic resources Wikidata; Q123032659
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2