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Cellosaurus ZZUi017-A (CVCL_YB84)

[Text version]
Cell line name ZZUi017-A
Synonyms ZZUi0017-A; ZZU-iPS-SCA6-001
Accession CVCL_YB84
Resource Identification Initiative To cite this cell line use: ZZUi017-A (RRID:CVCL_YB84)
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; 1388; CACNA1A; Repeat_expansion; p.Gln2313[25] (c.6937CAG[25]) (c.6937CAG[(21_30)]); ClinVar=VCV000562099; Zygosity=Heterozygous; Note=The non-expanded allele has p.Gln2313[13] (PubMed=32791484).
Disease Spinocerebellar ataxia type 6 (NCIt: C142838)
Spinocerebellar ataxia type 6 (ORDO: Orphanet_98758)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=32791484; DOI=10.1016/j.scr.2020.101946
Yang J., Liu H., Sun H.-F., Wang Z.-Y., Zhang R., Liu Y.-T., Zhang Q., Zhang S.-T., Zhang J., Shi C.-H., Wang Y.-L., Xu Y.-M.
Construction of induced pluripotent stem cell line (ZZUi0017-A) from the fibroblast cells of a female patient with CACNA1A mutation by unintegrated reprogramming approach.
Stem Cell Res. 48:101946-101946(2020)

Cross-references
Cell line databases/resources hPSCreg; ZZUi017-A
SKIP; SKIP005817
Biological sample resources BioSamples; SAMEA6162960
Encyclopedic resources Wikidata; Q98136691
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9