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Cellosaurus MJD2-9 (CVCL_W573)

[Text version]
Cell line name MJD2-9
Synonyms UKBi001-B
Accession CVCL_W573
Resource Identification Initiative To cite this cell line use: MJD2-9 (RRID:CVCL_W573)
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 21 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_W572 ! MJD2-2
Sex of cell Male
Age at sampling 40Y
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 collections (Providers) EBiSC; UKBi001-B
ECACC; 66540043 - Discontinued
Cell line databases/resources hPSCreg; UKBi001-B
SKIP; SKIP000312
SKIP; SKIP002673
Biological sample resources BioSamples; SAMEA3855072
Encyclopedic resources Wikidata; Q54905792
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number17