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Cellosaurus MJD2-2 (CVCL_W572)

[Text version]
Cell line name MJD2-2
Synonyms iLB-MJD2-29m-R2; UKBi001-A
Accession CVCL_W572
Resource Identification Initiative To cite this cell line use: MJD2-2 (RRID:CVCL_W572)
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_W573 ! MJD2-9
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-A - Discontinued
ECACC; 66540006 - Discontinued
Cell line databases/resources hPSCreg; UKBi001-A - Discontinued
SKIP; SKIP000311
SKIP; SKIP002504
Biological sample resources BioSamples; SAMEA2614016
Encyclopedic resources Wikidata; Q54905791
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number15