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Cellosaurus CSUXHi005-A (CVCL_A4GP)

[Text version]
Cell line name CSUXHi005-A
Synonyms UiPSC-SCA3-002-C5
Accession CVCL_A4GP
Resource Identification Initiative To cite this cell line use: CSUXHi005-A (RRID:CVCL_A4GP)
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; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[76]; Zygosity=Heterozygous; Note=The other allele has 26 repeats (PubMed=33761381).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=33761381; DOI=10.1016/j.scr.2021.102289
Lang He, Xiao-Bo Han, Hui-Fang Zhao, Shuai Li, Zhao Chen, Chun-Rong Wang, Shang Wang, Lin-Liu Peng, Wei-Yue Deng, Zhi-Yuan Li, Bei-Sha Tang, Hong Jiang;
Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line (CSUXHi005-A) from human urine epithelial cells.
Stem Cell Res. 53:102289-102289(2021)

Cross-references
Cell line databases/resources hPSCreg; CSUXHi005-A
Biological sample resources BioSamples; SAMEA7996636
Encyclopedic resources Wikidata; Q105506723
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number5