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Cellosaurus MJD4-1 (CVCL_W575)

[Text version]
Cell line name MJD4-1
Synonyms LB-34-1; iLB-MJD4-34m-r1; UKBi008-A
Accession CVCL_W575
Resource Identification Initiative To cite this cell line use: MJD4-1 (RRID:CVCL_W575)
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; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[73]; Zygosity=Heterozygous; Note=The other allele has 20 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)
Sex of cell Male
Age at sampling 41Y
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; UKBi008-A
ECACC; 66540003 - Discontinued
Cell line databases/resources hPSCreg; UKBi008-A
SKIP; SKIP000314
SKIP; SKIP002511
Biological sample resources BioSamples; SAMEA2590882
Encyclopedic resources Wikidata; Q54905794
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number19