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Cellosaurus iSCA3 E149-12 (CVCL_XI58)

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Cell line name iSCA3 E149-12
Accession CVCL_XI58
Resource Identification Initiative To cite this cell line use: iSCA3 E149-12 (RRID:CVCL_XI58)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[73]; Zygosity=Heterozygous; Note=The other allele has 14 repeats (PubMed=30718627).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_XI57 ! iSCA3 E149-10
Sex of cell Female
Age at sampling 39Y
Category Induced pluripotent stem cell
Publications

PubMed=30718627; DOI=10.1038/s41598-018-37774-2; PMCID=PMC6361947
Ching-Yu Chuang, Chih-Chao Yang, Bing-Wen Soong, Chun-Ying Yu, Shu-Hwa Chen, Hsiang-Po Huang, Hung-Chih Kuo;
Modeling spinocerebellar ataxias 2 and 3 with iPSCs reveals a role for glutamate in disease pathology.
Sci. Rep. 9:1166.1-1166.13(2019)

Cross-references
Encyclopedic resources Wikidata; Q94324116
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9