Cellosaurus cell line MJD2-9 (CVCL

Cellosaurus MJD2-9 (CVCL_W573)

Cross-references
Cell line name	MJD2-9
Synonyms	UKBi001-B
Accession	CVCL_W573
Resource Identification Initiative	To cite this cell line use: MJD2-9 (RRID:CVCL_W573)
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[74]; Zygosity=Heterozygous; Note=The other allele has 21 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)
Originate from same individual	CVCL_W572 ! MJD2-2
Sex of cell	Male
Age at sampling	40Y
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; UKBi001-B ECACC; 66540043 - Discontinued
Cell line databases/resources	hPSCreg; UKBi001-B SKIP; SKIP000312 SKIP; SKIP002673
Biological sample resources	BioSamples; SAMEA3855072
Encyclopedic resources	Wikidata; Q54905792
Entry history
Entry creation	16-Apr-2014
Last entry update	10-Apr-2025
Version number	19