ID   ICGi019-B
AC   CVCL_ZA53
SY   HCM1f33
DR   BioSamples; SAMEA6878103
DR   hPSCreg; ICGi019-B
DR   SKIP; SKIP005767
DR   Wikidata; Q98126760
RX   PubMed=32422568;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Met659Ile (c.1977G>A); ClinVar=VCV001054170; Zygosity=Heterozygous (PubMed=32422568).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172092; Familial hypertrophic cardiomyopathy type 1
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZA52 ! ICGi019-A
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32422568; DOI=10.1016/j.scr.2020.101840;
RA   Dementyeva E.V., Kovalenko V.R., Zhiven M.K., Ustyantseva E.I.,
RA   Kretov E.I., Vyatkin Y.V., Zakian S.M.;
RT   "Generation of two clonal iPSC lines, ICGi019-A and ICGi019-B, by
RT   reprogramming peripheral blood mononuclear cells of a patient
RT   suffering from hypertrophic cardiomyopathy and carrying a heterozygous
RT   p.M659I mutation in MYH7.";
RL   Stem Cell Res. 46:101840-101840(2020).
//