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Cellosaurus SCD36-3 (CVCL_A3FJ)

[Text version]
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: Transcriptome analysis by 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
Matsuzono K., Imamura K., Murakami N., Tsukita K., Yamamoto T., Izumi Y., Kaji R., Ohta Y., Yamashita T., Abe K., Inoue H.
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 update19-Dec-2024
Version number5