ID   MJD3-5
AC   CVCL_W574
SY   LB-33-5; iLB-MJD3-33f-r5; UKBi007-A
DR   BioSamples; SAMEA2825788
DR   EBiSC; UKBi007-A
DR   ECACC; 66540011
DR   hPSCreg; UKBi007-A
DR   SKIP; SKIP000313
DR   SKIP; SKIP002510
DR   Wikidata; Q54905793
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 27 repeats (PubMed=22113611).
CC   Discontinued: ECACC; 66540011; 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   ORDO; Orphanet_98757; Spinocerebellar ataxia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
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).
//