ID   EHTJUi003-A
AC   CVCL_A5EW
SY   DF-GMP-ZB12AD-H
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; HGNC:7551; MYBPC3; Simple; p.Leu460Trpfs*6 (c.1377delC); ClinVar=VCV000188548; Zygosity=Heterozygous (PubMed=34087980).
CC   Omics: Genomics; Whole exome sequencing.
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
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   Female
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 10-04-25; Version: 6
//
RX   PubMed=34087980; DOI=10.1016/j.scr.2021.102328;
RA   Jia, Wen-Wen
RA   Lu, Ji-Zhen
RA   Zhang, Lu
RA   Cao, Hong-Xia
RA   Qi, Yi-Yao
RA   Zhu, Han-Yu
RA   Bai, Zhi-Hui
RA   Zhang, Shou-Mei
RA   Qiao, Zhi-Bin
RA   Bao, Yan
RA   Liu, Zhong-Min
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).
//