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Cellosaurus GM02769 (CVCL_0Q51)

[Text version]
Cell line name GM02769
Accession CVCL_0Q51
Resource Identification Initiative To cite this cell line use: GM02769 (RRID:CVCL_0Q51)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4296; GLA; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000167140; Zygosity=Hemizygous (Coriell=GM02769).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18Y
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; GM02769
Cell line databases/resources CLO; CLO_0014801
Biological sample resources BioSample; SAMN00808096
Encyclopedic resources Wikidata; Q54837677
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number14