ID   MJD2-2
AC   CVCL_W572
SY   iLB-MJD2-29m-R2; UKBi001-A
DR   BioSamples; SAMEA2614016
DR   EBiSC; UKBi001-A
DR   ECACC; 66540006
DR   hPSCreg; UKBi001-A
DR   SKIP; SKIP000311
DR   SKIP; SKIP002504
DR   Wikidata; Q54905791
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: EBiSC; UKBi001-A; true.
CC   Discontinued: ECACC; 66540006; true.
CC   Discontinued: hPSCreg; UKBi001-A; 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_W573 ! MJD2-9
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 15
//
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).
//