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Cellosaurus ZZUi018-A (CVCL_YM36)

[Text version]
Cell line name ZZUi018-A
Synonyms ZZUi0018-A; ZZU-iPS-SCA6-002
Accession CVCL_YM36
Resource Identification Initiative To cite this cell line use: ZZUi018-A (RRID:CVCL_YM36)
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: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[14] (PubMed=32229428).
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 Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=32229428; DOI=10.1016/j.scr.2020.101777
Yang T., Qin J., Zhang Q., Sun H.-F., Wang Z.-Y., Yang J., Liu H., Zhang C., Zhang S.-T., Zhang J., Wang Y.-L., Xu Y.-M.
Generation of induced pluripotent stem cell line (ZZUi0018-A) from a patient with spinocerebellar ataxia type 6.
Stem Cell Res. 44:101777-101777(2020)

Cross-references
Cell line databases/resources hPSCreg; ZZUi018-A
SKIP; SKIP005738
Biological sample resources BioSamples; SAMEA6551739
Encyclopedic resources Wikidata; Q98136695
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9