ID   ZZUNEUi021-A
AC   CVCL_A6IY
SY   TNNT2-C418T-iPSC
DR   hPSCreg; ZZUNEUi021-A
DR   Wikidata; Q107117589
RX   PubMed=34929444;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 11949; TNNT2; Simple; p.Arg140Cys (c.418C>T); ClinVar=VCV000043636; Zygosity=Heterozygous (PubMed=34929444).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142892; Familial hypertrophic cardiomyopathy type 2
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=34929444; DOI=10.1016/j.scr.2021.102622;
RA   Dong Y.-M., Li X.-W., Fu W.-R., Tian X.-X., Guo G.-L., Peng Y.,
RA   Zhai Y.-F., Zhao J.-T., Ding Z.-R., Zhao X.-Y., Dong J.-Z.;
RT   "Generation of an iPSC line (ZZUNEUi021-A) from a hypertrophic
RT   cardiomyopathy patient with TNNT2 mutation.";
RL   Stem Cell Res. 58:102622-102622(2022).
//