ID   ZZUNEUi013-A
AC   CVCL_A9YL
SY   MYH6-G3755A-iPSC
DR   hPSCreg; ZZUNEUi013-A
DR   Wikidata; Q102115163
RX   PubMed=33385793;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7576; MYH6; Simple; p.Arg1252Gln (c.3755G>A); dbSNP=rs759454361; Zygosity=Heterozygous (PubMed=33385793).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176899; Familial hypertrophic cardiomyopathy type 14
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33385793; DOI=10.1016/j.scr.2020.102138;
RA   Wang L., Li X.-W., Fu W.-R., Zhang S., Du W.-T., Zhao J., Liu M.-D.,
RA   Wang M.-Y., Liu Y.-Y., Hu L., Ding Z.-R., Li L., Zhao X.-Y., Dong J.-Z.;
RT   "Generation of an IPSC line from a patient with hypertrophic
RT   cardiomyopathy carrying a mutation in MYH6 gene.";
RL   Stem Cell Res. 50:102138-102138(2021).
//