Rare diseases · Sign or symptom
Abnormal enzyme activity in cultured fibroblasts
HP:4000195
What it means
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.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.