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Cellosaurus CHOPi003-A (CVCL_UL70)

[Text version]

Cell line name CHOPi003-A
Synonyms CHOPSCA2-2
Accession CVCL_UL70
Resource Identification Initiative To cite this cell line use: CHOPi003-A (RRID:CVCL_UL70)
Comments From: Children's Hospital of Philadelphia; Philadelphia; USA.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 10555; ATXN2; Repeat_expansion; p.Gln166[43] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous (PubMed=30611021).
Disease Spinocerebellar ataxia type 2 (NCIt: C148315)
Spinocerebellar ataxia type 2 (ORDO: Orphanet_98756)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=30611021; DOI=10.1016/j.scr.2018.101361
Maguire J.A., Gagne A.L., Gonzalez-Alegre P., Davidson B.L., Shakkottai V., Gadue P., French D.L.
Generation of spinocerebellar ataxia type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene.
Stem Cell Res. 34:101361-101361(2019)

Cross-references
Cell line databases/resources hPSCreg; CHOPi003-A
Encyclopedic resources Wikidata; Q93453046
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number5