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Cellosaurus ZZUNEUi020-A (CVCL_A4UN)

[Text version]
Cell line name ZZUNEUi020-A
Synonyms MYH7-R719Q-iPSC
Accession CVCL_A4UN
Resource Identification Initiative To cite this cell line use: ZZUNEUi020-A (RRID:CVCL_A4UN)
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; 7577; MYH7; Simple; p.Arg719Gln (c.2156G>A); ClinVar=VCV000014107; Zygosity=Heterozygous (PubMed=33453578).
Disease Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092)
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 15Y
Category Induced pluripotent stem cell
Publications

PubMed=33453578; DOI=10.1016/j.scr.2021.102158
Li X.-W., Fu W.-R., Guo G.-L., Liu M.-D., Du W.-T., Zhao J., Liu Y.-Y., Wang L., Dong J.-Z., Zhao X.-Y.
A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent stem cell line (ZZUNEUi020-A) generated from a patient with hypertrophic cardiomyopathy.
Stem Cell Res. 51:102158-102158(2021)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi020-A
Encyclopedic resources Wikidata; Q107117588
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4