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Cellosaurus GM03561 (CVCL_AX22)

[Text version]
Cell line name GM03561
Accession CVCL_AX22
Resource Identification Initiative To cite this cell line use: GM03561 (RRID:CVCL_AX22)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:10560; ATXN7; Repeat_expansion; CAG[62] (g.53130CAG[(38_130)]); ClinVar=VCV000562100; Zygosity=Heterozygous (Coriell=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_AX23 ! GM03562
Sex of cell Female
Age at sampling 22Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
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; GM03561
Cell line databases/resources CLO; CLO_0017280
Biological sample resources BioSample; SAMN00808452
Encyclopedic resources Wikidata; Q54838131
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14