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Cellosaurus SCA3.B1 (CVCL_VF01)

[Text version]
Cell line name SCA3.B1
Accession CVCL_VF01
Resource Identification Initiative To cite this cell line use: SCA3.B1 (RRID:CVCL_VF01)
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[78]; Zygosity=Heterozygous; Note=The other allele has 14 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_DQ99 ! SCA3.B11
Sex of cell Male
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

PubMed=27596958; DOI=10.1016/j.scr.2016.07.004
Hansen S.K., Stummann T.C., Borland H., Hasholt L.F., Tumer Z., Nielsen J.E., Rasmussen M.A., Nielsen T.T., Daechsel J.C.A., Fog K., Hyttel P.
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; Q54952317
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number10