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Cellosaurus ZZUi027-A (CVCL_A5GT)

[Text version]
Cell line name ZZUi027-A
Synonyms ZZU-iPS-RAB39B-002; ZZU-iPS-PD-RAB39b-002
Accession CVCL_A5GT
Resource Identification Initiative To cite this cell line use: ZZUi027-A (RRID:CVCL_A5GT)
Comments From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 16499; RAB39B; Simple; p.Glu179fs*48 (c.536dupA); Zygosity=Hemizygous (PubMed=34247111).
Disease Waisman syndrome (NCIt: C184991)
Early-onset parkinsonism-intellectual disability syndrome (ORDO: Orphanet_2379)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=34247111; DOI=10.1016/j.scr.2021.102454
Sun H.-F., Wang Z.-Y., Zhang Q., Liu Y.-T., Yang J., Liu H., Shi C.-H., Wang Y.-L., Xu Y.-M.
Generation of induced pluripotent stem cell line (ZZUi027-A) derived from skin fibroblasts from a Parkinson's disease patient with RAB39B gene mutation.
Stem Cell Res. 55:102454-102454(2021)

Cross-references
Cell line databases/resources hPSCreg; ZZUi027-A
Biological sample resources BioSamples; SAMEA8152173
Encyclopedic resources Wikidata; Q107117580
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5