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Cellosaurus GZHMCi011-A (CVCL_D0F5)

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Cell line name GZHMCi011-A
Synonyms SCA3-LXM
Accession CVCL_D0F5
Resource Identification Initiative To cite this cell line use: GZHMCi011-A (RRID:CVCL_D0F5)
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[63]; Zygosity=Heterozygous; Note=The other allele has 14 repeats (PubMed=37866221).
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 29Y
Category Induced pluripotent stem cell
Publications

PubMed=37866221; DOI=10.1016/j.scr.2023.103190
Hong-Mei Guan, Xiao-Fang Sun, Bing Song;
Establishment of human-induced pluripotent stem cell GZHMCi0011-A from peripheral blood mononuclear cells from a volunteer with 14/63 CAG repeats of the ATXN3 mutation.
Stem Cell Res. 72:103190-103190(2023)

Cross-references
Cell line databases/resources hPSCreg; GZHMCi011-A
Biological sample resources BioSamples; SAMEA114245588
Encyclopedic resources Wikidata; Q123031383
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3