ID   MJD1-9
AC   CVCL_W571
SY   LB-32-R9; LB-32-r9; iLB-MJD1-32m-r9; UKBi003-A
DR   BioSamples; SAMEA2614075
DR   EBiSC; UKBi003-A
DR   ECACC; 66540007
DR   hPSCreg; UKBi003-A
DR   SKIP; SKIP000309
DR   SKIP; SKIP002506
DR   Wikidata; Q54905790
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 22 repeats (PubMed=22113611).
CC   Discontinued: ECACC; 66540007; 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_W570 ! MJD1-11
SX   Male
AG   38Y
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).
//