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: Heterozygous for ATXN3 74 and 22 CAG repeats (PubMed=22113611).
CC   Derived from sampling site: Skin; dermis.
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
OI   CVCL_W570 ! MJD1-11
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 02-07-20; Version: 13
//
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).
//