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Cellosaurus SCA3.A8 (CVCL_VE47)

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Cell line name SCA3.A8
Accession CVCL_VE47
Resource Identification Initiative To cite this cell line use: SCA3.A8 (RRID:CVCL_VE47)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[83]; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=27596958).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_DQ98 ! SCA3.A11
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Publications

PubMed=27596958; DOI=10.1016/j.scr.2016.07.004
Susanne K. Hansen, Tina C. Stummann, Helena Borland, Lis Frydenreich Hasholt, Zeynep Tumer, Jorgen E. Nielsen, Mikkel Aabech Rasmussen, Troels T. Nielsen, Justus C.A. Daechsel, Karina Fog, Poul Hyttel;
Induced pluripotent stem cell-derived neurons for the study of spinocerebellar ataxia type 3.
Stem Cell Res. 17:306-317(2016)

Cross-references
Encyclopedic resources Wikidata; Q54952316
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number10