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Cellosaurus ICGi019-A (CVCL_ZA52)

[Text version]
Cell line name ICGi019-A
Synonyms HCM1f6
Accession CVCL_ZA52
Resource Identification Initiative To cite this cell line use: ICGi019-A (RRID:CVCL_ZA52)
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; 7577; MYH7; Simple; p.Met659Ile (c.1977G>A); ClinVar=VCV001054170; Zygosity=Heterozygous (PubMed=32422568).
Disease Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZA53 ! ICGi019-B
Sex of cell Male
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=32422568; DOI=10.1016/j.scr.2020.101840
Dementyeva E.V., Kovalenko V.R., Zhiven M.K., Ustyantseva E.I., Kretov E.I., Vyatkin Y.V., Zakian S.M.
Generation of two clonal iPSC lines, ICGi019-A and ICGi019-B, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.M659I mutation in MYH7.
Stem Cell Res. 46:101840-101840(2020)

Cross-references
Cell line databases/resources hPSCreg; ICGi019-A
SKIP; SKIP005766
Biological sample resources BioSamples; SAMEA6878102
Encyclopedic resources Wikidata; Q98126758
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7