Cellosaurus logo
expasy logo

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; 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
Philipp Koch, Peter Breuer, Michael Peitz, Johannes Jungverdorben, Jaideep Kesavan, Daniel Poppe, Jonas Doerr, Julia Ladewig, Jerome Mertens, Thomas Tuting, Per Hoffmann ...Show all 15 authors... , Thomas Klockgether, Bernd O. Evert, Ullrich Wullner, Oliver Brustle; Show fewer authors
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 update19-Dec-2024
Version number18