ID   EHTJUi003-A
DR   BioSamples; SAMEA7829861
DR   hPSCreg; EHTJUi003-A
DR   Wikidata; Q107114858
RX   PubMed=34087980;
CC   From: East Hospital Affiliated to Tongji University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Leu460Trpfs*6 (c.1377delC); ClinVar=VCV000188548; Zygosity=Heterozygous (PubMed=34087980).
CC   Omics: Deep exome analysis.
CC   Derived from sampling site: Umbilical cord blood.
DI   NCIt; C133725; Familial hypertrophic cardiomyopathy type 4
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 23-09-21; Version: 2
RX   PubMed=34087980; DOI=10.1016/j.scr.2021.102328;
RA   Jia W.-W., Lu J.-Z., Zhang L., Cao H.-X., Qi Y.-Y., Zhu H.-Y.,
RA   Bai Z.-H., Zhang S.-M., Qiao Z.-B., Bao Y., Liu Z.-M.;
RT   "An induced pluripotent stem cell line (EHTJUi003-A) generated from a
RT   neonate with c.1377delC mutation in the gene MYBPC3 causing
RT   hypertrophic cardiomyopathy.";
RL   Stem Cell Res. 53:102328-102328(2021).