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Cellosaurus ZZUNEUi015-A (CVCL_A4ZQ)

[Text version]
Cell line name ZZUNEUi015-A
Accession CVCL_A4ZQ
Resource Identification Initiative To cite this cell line use: ZZUNEUi015-A (RRID:CVCL_A4ZQ)
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; 17574; ALPK3; Simple; p.Thr338lle (c.1013T>C); ClinVar=VCV000389853; Zygosity=Heterozygous (PubMed=33607470).
Disease Familial hypertrophic cardiomyopathy type 27 (NCIt: C179054)
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 49Y
Category Induced pluripotent stem cell
Publications

PubMed=33607470; DOI=10.1016/j.scr.2021.102247
Tian X.-X., Fu W.-R., Guo G.-L., Huang S.-J., Dong Y.-M., Li X.-W., Dong J.-Z., Zhao X.-Y., Zhang Y.-Z.
Generation of a human iPSC line ZZUNEUi015-A from a patient with hypertrophic cardiomyopathy caused by mutation in ALPK3.
Stem Cell Res. 52:102247-102247(2021)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi015-A
Encyclopedic resources Wikidata; Q107117583
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4