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Cellosaurus SCD36-2 (CVCL_A3FI)

[Text version]
Cell line name SCD36-2
Synonyms SCD10 9E; HPS0422
Accession CVCL_A3FI
Resource Identification Initiative To cite this cell line use: SCD36-2 (RRID:CVCL_A3FI)
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 Male
Age at sampling 60Y
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
Cell line collections (Providers) RCB; HPS0422
Encyclopedic resources Wikidata; Q105510986
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number5