ID   ICGi029-A
AC   CVCL_A5VV
SY   HCM14fm6.2
DR   BioSamples; SAMEA8307096
DR   hPSCreg; ICGi029-A
DR   Wikidata; Q107115426
RX   PubMed=33892289;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Asn515del (c.1543_1545delAAC); ClinVar=VCV000181070; Zygosity=Heterozygous (PubMed=33892289).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133725; Familial hypertrophic cardiomyopathy type 4
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33892289; DOI=10.1016/j.scr.2021.102344;
RA   Dementyeva E.V., Pavlova S.V., Chernyavsky A.M., Zakian S.M.;
RT   "Generation of an induced pluripotent stem cell line, ICGi029-A, by
RT   reprogramming peripheral blood mononuclear cells of a patient
RT   suffering from hypertrophic cardiomyopathy and carrying a heterozygous
RT   p.N515del mutation in MYBPC3.";
RL   Stem Cell Res. 53:102344-102344(2021).
//