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Cellosaurus GM03562 (CVCL_AX23)

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Cell line name GM03562
Accession CVCL_AX23
Resource Identification Initiative To cite this cell line use: GM03562 (RRID:CVCL_AX23)
Comments Population: African American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10560; ATXN7; Repeat_expansion; CAG[62] (g.53130CAG[(38_130)]); ClinVar=VCV000562100; Zygosity=Heterozygous (from autologous cell line GM03561).
Disease Spinocerebellar ataxia type 7 (NCIt: C126562)
Spinocerebellar ataxia type 7 (ORDO: Orphanet_94147)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_AX22 ! GM03561
Sex of cell Female
Age at sampling 22Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM03562
Cell line databases/resources CLO; CLO_0017282
Biological sample resources BioSample; SAMN00808453
Encyclopedic resources Wikidata; Q54838132
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number15