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Cellosaurus MJD1-11 (CVCL_W570)

[Text version]
Cell line name MJD1-11
Accession CVCL_W570
Resource Identification Initiative To cite this cell line use: MJD1-11 (RRID:CVCL_W570)
Comments From: Institut fur Rekonstruktive Neurobiologie, University Clinic of Bonn; Bonn; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[74]; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=22113611).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Parkinson's disease (NCIt: C26845)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_W571 ! MJD1-9
Sex of cell Male
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=22113611; DOI=10.1038/nature10671
Koch P., Breuer P., Peitz M., Jungverdorben J., Kesavan J., Poppe D., Doerr J., Ladewig J., Mertens J., Tuting T., Hoffmann P., Klockgether T., Evert B.O., Wullner U., Brustle O.
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease.
Nature 480:543-546(2011)

Cross-references
Cell line databases/resources SKIP; SKIP000310
Encyclopedic resources Wikidata; Q54905789
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number14