ID   ZZUNEUi028-A
AC   CVCL_B7T3
DR   BioSamples; SAMEA14509782
DR   hPSCreg; ZZUNEUi028-A
DR   Wikidata; Q112930602
RX   PubMed=35772297;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Arg502Trp (c.1504C>T); ClinVar=VCV000042540; Zygosity=Heterozygous (PubMed=35772297).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133725; Familial hypertrophic cardiomyopathy type 4
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35772297; DOI=10.1016/j.scr.2022.102848;
RA   Cheng D., Zhang S.-Y., Li X.-W., Wang L., Dong J.-Z., Zhang H.-Q.;
RT   "An integration-free iPSC line ZZUNEUi028-A derived from a patient
RT   with hypertrophic cardiomyopathy carrying a heterozygous mutation (c.
RT   1504 C > T) in MYBPC3 gene.";
RL   Stem Cell Res. 63:102848-102848(2022).
//