Cellosaurus cell line ICGi019-A (CVCL

Cellosaurus ICGi019-A (CVCL_ZA52)

Cross-references
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; 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 Elena Vyacheslavovna Dementyeva, Victoria R. Kovalenko, Maria K. Zhiven, Elizaveta I. Ustyantseva, Evgeny Ivanovich Kretov, Yuri V. Vyatkin, Suren Minasovich Zakian; 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)
Cell line databases/resources	hPSCreg; ICGi019-A SKIP; SKIP005766
Biological sample resources	BioSamples; SAMEA6878102
Encyclopedic resources	Wikidata; Q98126758
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8