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Cellosaurus ICGi028-A (CVCL_A5VU)

[Text version]
Cell line name ICGi028-A
Synonyms HCM4fm5.2
Accession CVCL_A5VU
Resource Identification Initiative To cite this cell line use: ICGi028-A (RRID:CVCL_A5VU)
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; 4801; HADHA; Simple; p.Glu510Gln (c.1528G>C); ClinVar=VCV000100085; Zygosity=Heterozygous (PubMed=33887580).
Disease Hypertrophic cardiomyopathy (NCIt: C34449)
Hypertrophic cardiomyopathy (ORDO: Orphanet_217569)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=33887580; DOI=10.1016/j.scr.2021.102348
Dementyeva E.V., Vyatkin Y.V., Chernyavsky A.M., Zakian S.M.
Generation of an induced pluripotent stem cell line, ICGi028-A, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.E510Q mutation in HADHA.
Stem Cell Res. 53:102348-102348(2021)

Cross-references
Cell line databases/resources hPSCreg; ICGi028-A
Biological sample resources BioSamples; SAMEA8307099
Encyclopedic resources Wikidata; Q107115425
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4