ID   ICGi028-A
AC   CVCL_A5VU
SY   HCM4fm5.2
DR   BioSamples; SAMEA8307099
DR   hPSCreg; ICGi028-A
DR   Wikidata; Q107115425
RX   PubMed=33887580;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4801; HADHA; Simple; p.Glu510Gln (c.1528G>C); ClinVar=VCV000100085; Zygosity=Heterozygous (PubMed=33887580).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34449; Hypertrophic cardiomyopathy
DI   ORDO; Orphanet_217569; Hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33887580; DOI=10.1016/j.scr.2021.102348;
RA   Dementyeva E.V., Vyatkin Y.V., Chernyavsky A.M., Zakian S.M.;
RT   "Generation of an induced pluripotent stem cell line, ICGi028-A, by
RT   reprogramming peripheral blood mononuclear cells of a patient
RT   suffering from hypertrophic cardiomyopathy and carrying a heterozygous
RT   p.E510Q mutation in HADHA.";
RL   Stem Cell Res. 53:102348-102348(2021).
//