Cellosaurus cell line ICGi029-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; ICGi029-A
Biological sample resources	BioSamples; SAMEA8307096
Encyclopedic resources	Wikidata; Q107115426
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5