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Cellosaurus ZZUi036-A (CVCL_C0IH)

[Text version]
Cell line name ZZUi036-A
Synonyms ZZU-iPS-NIID-NOTCH2NLC-001
Accession CVCL_C0IH
Resource Identification Initiative To cite this cell line use: ZZUi036-A (RRID:CVCL_C0IH)
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; HGNC:53924; NOTCH2NLC; Simple; c.-164GGC[(66_517)]; ClinVar=VCV000691867; Zygosity=Heterozygous; Note=93 GGC repeats (PubMed=35772299).
Disease Neuronal intranuclear inclusion disease (NCIt: C122655)
Neuronal intranuclear inclusion disease (ORDO: Orphanet_2289)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 68Y
Category Induced pluripotent stem cell
Publications

PubMed=35772299; DOI=10.1016/j.scr.2022.102844
Li J.-D., Fan Y., Fan L.-Y., Liu F., Hao X.-Y., Li M.-J., Mao C.-Y., Xu Y.-M., Shi C.-H.
Generation of an induced pluripotent stem cell line (ZZUi036-A) derived from skin fibroblasts of a neuronal intranuclear inclusion disease patient with GGC repeat expansion in the NOTCH2NLC gene.
Stem Cell Res. 63:102844-102844(2022)

Cross-references
Cell line databases/resources hPSCreg; ZZUi036-A
Biological sample resources BioSamples; SAMEA13855334
Encyclopedic resources Wikidata; Q112930599
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5