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Cellosaurus ZZUNEUi028-A (CVCL_B7T3)

[Text version]
Cell line name ZZUNEUi028-A
Accession CVCL_B7T3
Resource Identification Initiative To cite this cell line use: ZZUNEUi028-A (RRID:CVCL_B7T3)
Comments From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7551; MYBPC3; Simple; p.Arg502Trp (c.1504C>T); ClinVar=VCV000042540; Zygosity=Heterozygous (PubMed=35772297).
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 Male
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=35772297; DOI=10.1016/j.scr.2022.102848
Cheng D., Zhang S.-Y., Li X.-W., Wang L., Dong J.-Z., Zhang H.-Q.
An integration-free iPSC line ZZUNEUi028-A derived from a patient with hypertrophic cardiomyopathy carrying a heterozygous mutation (c 1504 C > T) in MYBPC3 gene.
Stem Cell Res. 63:102848-102848(2022)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi028-A
Biological sample resources BioSamples; SAMEA14509782
Encyclopedic resources Wikidata; Q112930602
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4