DR   hPSCreg; ZZUNEUi007-A
DR   SKIP; SKIP005644
DR   Wikidata; Q98136724
RX   PubMed=31931472;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Arg663His (c.1988G>A); ClinVar=VCV000042875; Zygosity=Heterozygous (PubMed=31931472).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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)
SX   Female
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
RX   PubMed=31931472; DOI=10.1016/j.scr.2020.101699;
RA   Li X.-W., Liu Y.-Y., Liu F.-F., Wang X.-J., Liu M.-D., Du W.-T.,
RA   Zhao J., Wang M.-Y., Hu L., Wang C.-C., Fu W.-R., Dong J.-Z.,
RA   Zhao X.-Y.;
RT   "Generation of a hiPSC line ZZUNEUi007-A from a patient with
RT   hypertrophic cardiomyopathy caused by mutation in MYH7.";
RL   Stem Cell Res. 43:101699-101699(2020).