Cellosaurus cell line MJD4-1 (CVCL

Cellosaurus MJD4-1 (CVCL_W575)

Cross-references
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 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 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)
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 creation	16-Apr-2014
Last entry update	10-Apr-2025
Version number	20