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Cellosaurus ZZUNEUi027-A (CVCL_B7T2)

[Text version]
Cell line name ZZUNEUi027-A
Accession CVCL_B7T2
Resource Identification Initiative To cite this cell line use: ZZUNEUi027-A (RRID:CVCL_B7T2)
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; 6251; KCNH2; Simple; p.Tyr43Cys (c.128A>G); ClinVar=VCV000067182; Zygosity=Heterozygous (PubMed=35700634).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 16Y
Category Induced pluripotent stem cell
Publications

PubMed=35700634; DOI=10.1016/j.scr.2022.102836
Zhao J.-T., Wang L., Zhu K., Chen X.-W., Qin F., Li X.-W., Dong J.-Z., Tao H.-L.
Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant.
Stem Cell Res. 63:102836-102836(2022)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi027-A
Biological sample resources BioSamples; SAMEA14328246
Encyclopedic resources Wikidata; Q112930601
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4