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Cellosaurus SCD36-3 (CVCL_A3FJ)

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Cell line name SCD36-3
Synonyms SCD20 2E
Accession CVCL_A3FJ
Resource Identification Initiative To cite this cell line use: SCD36-3 (RRID:CVCL_A3FJ)
Comments Population: Japanese.
Omics: Transcriptomics; RNAseq.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15911; NOP56; Simple; c.3+71_3+75[(16_?)] (IVS1 GGCCTG repeat expansion); ClinVar=VCV000031106; Zygosity=Unspecified (PubMed=28918022).
Disease Spinocerebellar ataxia type 36 (NCIt: C148316)
Spinocerebellar ataxia type 36 (ORDO: Orphanet_276198)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 65Y
Category Induced pluripotent stem cell
Publications

PubMed=28918022; DOI=10.1016/j.omtn.2017.06.017; PMCID=PMC5504081
Kosuke Matsuzono, Keiko Imamura, Nagahisa Murakami, Kayoko Tsukita, Takuya Yamamoto, Yuishin Izumi, Ryuji Kaji, Yasuyuki Ohta, Toru Yamashita, Koji Abe, Haruhisa Inoue;
Antisense oligonucleotides reduce RNA foci in spinocerebellar ataxia 36 patient iPSCs.
Mol. Ther. Nucleic Acids 8:211-219(2017)

Cross-references
Encyclopedic resources Wikidata; Q105510989
Entry history
Entry creation12-Jan-2021
Last entry update10-Apr-2025
Version number6