Cellosaurus logo
expasy logo

Cellosaurus GM04391 (CVCL_4N44)

[Text version]
Cell line name GM04391
Accession CVCL_4N44
Resource Identification Initiative To cite this cell line use: GM04391 (RRID:CVCL_4N44)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4296; GLA; Simple; p.Asn215Ser (c.644A>G); ClinVar=VCV000010730; Zygosity=Hemizygous (Coriell=GM04391).
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 41Y
Category Transformed 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; GM04391
Cell line databases/resources CLO; CLO_0019701
Encyclopedic resources Wikidata; Q54838510
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14