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Cellosaurus ZZUSAHi004-A (CVCL_C6U7)

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Cell line name ZZUSAHi004-A
Accession CVCL_C6U7
Resource Identification Initiative To cite this cell line use: ZZUSAHi004-A (RRID:CVCL_C6U7)
Comments From: Zhengzhou University Second Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:379; AKAP9; Simple; p.Gln1341Lys (c.4021C>A); Zygosity=Heterozygous (PubMed=36395689).
Disease Long QT syndrome 11 (NCIt: C192195)
Familial long QT syndrome (ORDO: Orphanet_768)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=36395689; DOI=10.1016/j.scr.2022.102966
Tong-Bin Ding, Wen-Li Zhu, Xiao-Wei Li, Li-Guo Jian;
Reprogramming of a human induced pluripotent stem cell line (ZZUSAHi004-A) from a long QT syndrome patient with a heterozygous AKAP9 (c.4021C > A) mutant.
Stem Cell Res. 65:102966-102966(2022)

Cross-references
Cell line databases/resources hPSCreg; ZZUSAHi004-A
Biological sample resources BioSamples; SAMEA111442306
Encyclopedic resources Wikidata; Q123034010
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4