ID   MJD4-1
AC   CVCL_W575
SY   LB-34-1; iLB-MJD4-34m-r1; UKBi008-A
DR   BioSamples; SAMEA2590882
DR   EBiSC; UKBi008-A
DR   ECACC; 66540003
DR   hPSCreg; UKBi008-A
DR   SKIP; SKIP000314
DR   SKIP; SKIP002511
DR   Wikidata; Q54905794
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[73]; Zygosity=Heterozygous; Note=The other allele has 20 repeats (PubMed=22113611).
CC   Discontinued: ECACC; 66540003; 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)
SX   Male
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 18
//
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).
//