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Cellosaurus iSCA2 E209-9 (CVCL_XI54)

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Cell line name iSCA2 E209-9
Accession CVCL_XI54
Resource Identification Initiative To cite this cell line use: iSCA2 E209-9 (RRID:CVCL_XI54)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[44] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=30718627).
Disease Spinocerebellar ataxia type 2 (NCIt: C148315)
Spinocerebellar ataxia type 2 (ORDO: Orphanet_98756)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_XI53 ! iSCA2 E209-6
Sex of cell Female
Age at sampling 36Y
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; Q94324097
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number8