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Cellosaurus CSUXHi002-A (CVCL_ZA46)

[Text version]
Cell line name CSUXHi002-A
Synonyms SCA1-iPSCs
Accession CVCL_ZA46
Resource Identification Initiative To cite this cell line use: CSUXHi002-A (RRID:CVCL_ZA46)
Comments From: Department of Neurology, Xiangya Hospital of Central South University; Changsha; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 10548; ATXN1; Repeat_expansion; CAG[65]; Zygosity=Heterozygous (PubMed=32335388).
Disease Spinocerebellar ataxia type 1 (NCIt: C129982)
Spinocerebellar ataxia type 1 (ORDO: Orphanet_98755)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 26Y
Category Induced pluripotent stem cell
Publications

PubMed=32335388; DOI=10.1016/j.scr.2020.101816
He L., Zhao H.-F., Li S., Han X.-B., Chen Z., Wang C.-R., Tian C., Tang F., Huang R.-Q., Lin Z.-X., Li Z.-Y., Tang B.-S., Jiang H.
Generation of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1.
Stem Cell Res. 45:101816-101816(2020)

Cross-references
Cell line databases/resources hPSCreg; CSUXHi002-A
SKIP; SKIP005742
Biological sample resources BioSamples; SAMEA6762571
Encyclopedic resources Wikidata; Q98125792
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number6