ID   iSCA2-17
AC   CVCL_XI51
DR   Wikidata; Q94324102
RX   PubMed=30718627;
CC   Sequence variation: Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[35] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=30718627).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148315; Spinocerebellar ataxia type 2
DI   ORDO; Orphanet_98756; Spinocerebellar ataxia type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XI52 ! iSCA2-28
SX   Male
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=30718627; DOI=10.1038/s41598-018-37774-2; PMCID=PMC6361947;
RA   Chuang C.-Y., Yang C.-C., Soong B.-W., Yu C.-Y., Chen S.-H.,
RA   Huang H.-P., Kuo H.-C.;
RT   "Modeling spinocerebellar ataxias 2 and 3 with iPSCs reveals a role
RT   for glutamate in disease pathology.";
RL   Sci. Rep. 9:1166-1166(2019).
//