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Cellosaurus ZZUi020-A (CVCL_A3ZH)

[Text version]
Cell line name ZZUi020-A
Synonyms ZZU-iPS-PD-NOTCH2NLC-001
Accession CVCL_A3ZH
Resource Identification Initiative To cite this cell line use: ZZUi020-A (RRID:CVCL_A3ZH)
Comments From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 53924; NOTCH2NLC; Simple; c.-164GGC[(66_517)]; ClinVar=VCV000691867; Zygosity=Heterozygous; Note=51 GGC repeats (PubMed=33626493).
Disease Parkinson's disease (NCIt: C26845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 62Y
Category Induced pluripotent stem cell
Publications

PubMed=33626493; DOI=10.1016/j.scr.2021.102257
Fan Y., Liu F., Fan L.-Y., Mao C.-Y., Liu H., Zhang C., Yuan Y.-P., Yang J., Wang Y.-L., Liu Y.-T., Shi C.-H., Xu Y.-M.
Generation of an induced pluripotent stem cell line (ZZUi020-A) from a patient with Parkinson's disease harboring the intermediate-length GGC repeat expansions in the NOTCH2NLC gene.
Stem Cell Res. 52:102257-102257(2021)

Cross-references
Cell line databases/resources hPSCreg; ZZUi020-A
Encyclopedic resources Wikidata; Q105511879
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5