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Cellosaurus IBCHi002-A (CVCL_XC41)

[Text version]
Cell line name IBCHi002-A
Synonyms iPSC_SCA3; iSCA3-34
Accession CVCL_XC41
Resource Identification Initiative To cite this cell line use: IBCHi002-A (RRID:CVCL_XC41)
Comments From: Institute of Bioorganic Chemistry Polish Academy of Sciences; Poznan; Poland.
Population: Caucasian; Portuguese.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[71]; Zygosity=Heterozygous; Note=The other allele has 23 repeats (PubMed=32361312).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_7452 (GM06153)
Sex of cell Male
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=32361312; DOI=10.1016/j.scr.2020.101796
Ciolak A., Krzyzosiak W.J., Kozlowska E., Fiszer A.
Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts.
Stem Cell Res. 45:101796-101796(2020)

Cross-references
Cell line databases/resources hPSCreg; IBCHi002-A
Encyclopedic resources Wikidata; Q94312592
Entry history
Entry creation06-Sep-2019
Last entry update29-Jun-2023
Version number6