Cellosaurus logo
expasy logo

Cellosaurus iSCA3 E149-10 (CVCL_XI57)

[Text version]
Cell line name iSCA3 E149-10
Accession CVCL_XI57
Resource Identification Initiative To cite this cell line use: iSCA3 E149-10 (RRID:CVCL_XI57)
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_XI58 ! iSCA3 E149-12
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
Chuang C.-Y., Yang C.-C., Soong B.-W., Yu C.-Y., Chen S.-H., Huang H.-P., Kuo H.-C.
Modeling spinocerebellar ataxias 2 and 3 with iPSCs reveals a role for glutamate in disease pathology.
Sci. Rep. 9:1166-1166(2019)

Cross-references
Encyclopedic resources Wikidata; Q94324112
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9