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Cellosaurus CJUHi001-A (CVCL_C6TW)

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Cell line name CJUHi001-A
Accession CVCL_C6TW
Resource Identification Initiative To cite this cell line use: CJUHi001-A (RRID:CVCL_C6TW)
Comments From: China-Japan Union Hospital; Changchun City; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10548; ATXN1; Repeat_expansion; CAG[44]; Zygosity=Heterozygous (PubMed=36459834).
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 Female
Age at sampling 47Y
Category Induced pluripotent stem cell
Publications

PubMed=36459834; DOI=10.1016/j.scr.2022.102975
Yin-Shi Jin, Guang-Xian Nan;
Generation of induced pluripotent stem cell (iPSC) line CJUHi001-A derived peripheral blood mononuclear cells of spinocerebellar ataxia type 1 (SCA1) the CAG repeat mutation in ATXN1 gene.
Stem Cell Res. 66:102975-102975(2023)

Cross-references
Cell line databases/resources hPSCreg; CJUHi001-A
Encyclopedic resources Wikidata; Q117704254
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3