ID   iSCA2 E209-9
AC   CVCL_XI54
DR   Wikidata; Q94324097
RX   PubMed=30718627;
CC   Sequence variation: Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[44] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=30718627).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148315; Spinocerebellar ataxia type 2
DI   ORDO; Orphanet_98756; Spinocerebellar ataxia type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XI53 ! iSCA2 E209-6
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
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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. 9:1166.1-1166.13(2019).
//