ID   SCD36-3
AC   CVCL_A3FJ
SY   SCD20 2E
DR   Wikidata; Q105510989
RX   PubMed=28918022;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:15911; NOP56; Simple; c.3+71_3+75[(16_?)] (IVS1 GGCCTG repeat expansion); ClinVar=VCV000031106; Zygosity=Unspecified (PubMed=28918022).
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148316; Spinocerebellar ataxia type 36
DI   ORDO; Orphanet_276198; Spinocerebellar ataxia type 36
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 10-04-25; Version: 6
//
RX   PubMed=28918022; DOI=10.1016/j.omtn.2017.06.017; PMCID=PMC5504081;
RA   Matsuzono K., Imamura K., Murakami N., Tsukita K., Yamamoto T.,
RA   Izumi Y., Kaji R., Ohta Y., Yamashita T., Abe K., Inoue H.;
RT   "Antisense oligonucleotides reduce RNA foci in spinocerebellar ataxia
RT   36 patient iPSCs.";
RL   Mol. Ther. Nucleic Acids 8:211-219(2017).
//