ID   SCA3.B1
AC   CVCL_VF01
DR   Wikidata; Q54952317
RX   PubMed=27596958;
CC   Sequence variation: Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[78]; Zygosity=Heterozygous; Note=The other allele has 14 repeats (PubMed=27596958).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
OI   CVCL_DQ99 ! SCA3.B11
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27596958; DOI=10.1016/j.scr.2016.07.004;
RA   Hansen S.K., Stummann T.C., Borland H., Hasholt L.F., Tumer Z.,
RA   Nielsen J.E., Rasmussen M.A., Nielsen T.T., Daechsel J.C.A., Fog K.,
RA   Hyttel P.;
RT   "Induced pluripotent stem cell-derived neurons for the study of
RT   spinocerebellar ataxia type 3.";
RL   Stem Cell Res. 17:306-317(2016).
//