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Cellosaurus GZHMCi009-A (CVCL_C0IB)

[Text version]
Cell line name GZHMCi009-A
Synonyms SCA3-iPSC1; SCA3-CJY
Accession CVCL_C0IB
Resource Identification Initiative To cite this cell line use: GZHMCi009-A (RRID:CVCL_C0IB)
Comments From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[74]; Zygosity=Heterozygous; Note=The other allele has 14 repeats (PubMed=35421843).
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 Male
Age at sampling 35Y
Category Induced pluripotent stem cell
Publications

PubMed=35421843; DOI=10.1016/j.scr.2022.102782
Yang Y.-H., Luo Q., Song B., Xie Y.-J., He W.-Z., Chen B.-Z., Sun X.-F.
Generation of two induced pluripotent stem cell lines, GZHMCi009-A and GZHMCi010-A, derived from peripheral blood mononuclear cells of two SCA3 patients with 14/74 CAG repeats of the ATXN3 mutation.
Stem Cell Res. 61:102782-102782(2022)

Cross-references
Cell line databases/resources hPSCreg; GZHMCi009-A
Biological sample resources BioSamples; SAMEA14093699
Encyclopedic resources Wikidata; Q112929636
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6