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Cellosaurus MJD3-5 (CVCL_W574)

[Text version]
Cell line name MJD3-5
Synonyms LB-33-5; iLB-MJD3-33f-r5; UKBi007-A
Accession CVCL_W574
Resource Identification Initiative To cite this cell line use: MJD3-5 (RRID:CVCL_W574)
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[73]; Zygosity=Heterozygous; Note=The other allele has 27 repeats (PubMed=22113611).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
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; UKBi007-A
ECACC; 66540011 - Discontinued
Cell line databases/resources hPSCreg; UKBi007-A
SKIP; SKIP000313
SKIP; SKIP002510
Biological sample resources BioSamples; SAMEA2825788
Encyclopedic resources Wikidata; Q54905793
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number17