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Cellosaurus GM06927 (CVCL_T904)

[Text version]
Cell line name GM06927
Accession CVCL_T904
Resource Identification Initiative To cite this cell line use: GM06927 (RRID:CVCL_T904)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 10548; ATXN1; Repeat_expansion; CAG[52]; Zygosity=Heterozygous; Note=The other allele has 29 repeats (Coriell=GM06927).
Disease Spinocerebellar ataxia type 1 (NCIt: C129982)
Spinocerebellar ataxia type 1 (ORDO: Orphanet_98755)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_T903 ! GM06926
Sex of cell Male
Age at sampling 29Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM06927
Cell line databases/resources CLO; CLO_0036470
Encyclopedic resources Wikidata; Q54842393
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number14