Cellosaurus cell line EHTJUi003-A (CVCL

Cross-references
Cell line name	EHTJUi003-A
Synonyms	DF-GMP-ZB12AD-H
Accession	CVCL_A5EW
Resource Identification Initiative	To cite this cell line use: EHTJUi003-A (RRID:CVCL_A5EW)
Comments	From: East Hospital Affiliated to Tongji University; Shanghai; China. Population: Chinese; Han. Omics: Deep exome analysis. Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
Sequence variations	Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Leu460Trpfs*6 (c.1377delC); ClinVar=VCV000188548; Zygosity=Heterozygous (PubMed=34087980).
Disease	Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	<1D
Category	Induced pluripotent stem cell
Publications	PubMed=34087980; DOI=10.1016/j.scr.2021.102328 Jia W.-W., Lu J.-Z., Zhang L., Cao H.-X., Qi Y.-Y., Zhu H.-Y., Bai Z.-H., Zhang S.-M., Qiao Z.-B., Bao Y., Liu Z.-M. An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene MYBPC3 causing hypertrophic cardiomyopathy. Stem Cell Res. 53:102328-102328(2021)
Cell line databases/resources	hPSCreg; EHTJUi003-A
Biological sample resources	BioSamples; SAMEA7829861
Encyclopedic resources	Wikidata; Q107114858
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5