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Cellosaurus EHTJUi003-A (CVCL_A5EW)

[Text version]

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 sampling site: Umbilical cord blood.
Sequence variations Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; EHTJUi003-A
Biological sample resources BioSamples; SAMEA7829861
Other Wikidata; Q107114858
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2