ID   MJD2-9
AC   CVCL_W573
SY   UKBi001-B
DR   BioSamples; SAMEA3855072
DR   EBiSC; UKBi001-B
DR   ECACC; 66540043
DR   hPSCreg; UKBi001-B
DR   SKIP; SKIP000312
DR   SKIP; SKIP002673
DR   Wikidata; Q54905792
RX   PubMed=22113611;
CC   From: Institut fur Rekonstruktive Neurobiologie, University Clinic of Bonn; Bonn; Germany.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[74]; Zygosity=Heterozygous; Note=The other allele has 21 repeats (PubMed=22113611).
CC   Discontinued: ECACC; 66540043; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84830; Spinocerebellar ataxia type 3
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_98757; Spinocerebellar ataxia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W572 ! MJD2-2
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 17
//
RX   PubMed=22113611; DOI=10.1038/nature10671;
RA   Koch P., Breuer P., Peitz M., Jungverdorben J., Kesavan J., Poppe D.,
RA   Doerr J., Ladewig J., Mertens J., Tuting T., Hoffmann P.,
RA   Klockgether T., Evert B.O., Wullner U., Brustle O.;
RT   "Excitation-induced ataxin-3 aggregation in neurons from patients with
RT   Machado-Joseph disease.";
RL   Nature 480:543-546(2011).
//