Human Gene Set: HP_ABNORMAL_ENZYME_ACTIVITY_IN_CULTURED_FIBROBLASTS


Standard name HP_ABNORMAL_ENZYME_ACTIVITY_IN_CULTURED_FIBROBLASTS
Systematic name M48945
Brief description Abnormal enzyme activity in cultured fibroblasts
Full description or abstract Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts. []
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:4000195
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:4000195
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2025.1.Hs: Updated to HPO Release 2025-05-06.

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