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Cellosaurus SCD36-1 (CVCL_A3FH)

[Text version]
Cell line name SCD36-1
Synonyms SCD4 E2; HPS1034
Accession CVCL_A3FH
Resource Identification Initiative To cite this cell line use: SCD36-1 (RRID:CVCL_A3FH)
Comments Population: Japanese.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; 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 64Y
Category Induced pluripotent stem cell
Publications

PubMed=28918022; DOI=10.1016/j.omtn.2017.06.017
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; HPS1034
Encyclopedic resources Wikidata; Q105510982
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5