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Cellosaurus ZZUNEUi025-A (CVCL_B5EU)

[Text version]
Cell line name ZZUNEUi025-A
Accession CVCL_B5EU
Resource Identification Initiative To cite this cell line use: ZZUNEUi025-A (RRID:CVCL_B5EU)
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; HGNC:7551; MYBPC3; Simple; c.772+1G>A; ClinVar=VCV000042790; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=35257994).
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 52Y
Category Induced pluripotent stem cell
Publications

PubMed=35257994; DOI=10.1016/j.scr.2022.102722
Zhao X., Cao J.-H., Li X.-W., Liu M.-D., Liu Y.-Y., Dong J.-Z., Zhao X.-Y.
A heterozygous MYBPC3 (c. 772+1G > A) mutant human induced pluripotent stem cell line (ZZUNEUi025-A) generated from a male patient with hypertrophic cardiomyopathy.
Stem Cell Res. 60:102722-102722(2022)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi025-A
Encyclopedic resources Wikidata; Q110434451
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number6