ID   ZZUNEUi020-A
AC   CVCL_A4UN
SY   MYH7-R719Q-iPSC
DR   hPSCreg; ZZUNEUi020-A
DR   Wikidata; Q107117588
RX   PubMed=33453578;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Arg719Gln (c.2156G>A); ClinVar=VCV000014107; Zygosity=Heterozygous (PubMed=33453578).
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)
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33453578; DOI=10.1016/j.scr.2021.102158;
RA   Li X.-W., Fu W.-R., Guo G.-L., Liu M.-D., Du W.-T., Zhao J.,
RA   Liu Y.-Y., Wang L., Dong J.-Z., Zhao X.-Y.;
RT   "A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent
RT   stem cell line (ZZUNEUi020-A) generated from a patient with
RT   hypertrophic cardiomyopathy.";
RL   Stem Cell Res. 51:102158-102158(2021).
//