pnrobinson
commented
10 months ago @MickeySegal
Adding new term:
- ID: HP:6000158
- label: Unesterified cholesterol accumulation in cultured fibroblasts
- parents: Abnormality of lysosomal metabolism (HP:0004356)
- pmid: PMID:25665455
- def: An abnormal result of the the filipin test. In this test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs).
- comment: The filipin test is useful for the evaluation of impaired cholesterol esterification in cultured cells (fibroblasts or others) in Niemann-Pick disease type C.
- orcid: orcid:0000-0002-0736-9199
- github ID: https://github.com/obophenotype/human-phenotype-ontology/issues/9212
- synonyms: Positive filipin test(NONE)
New term request Filipin stain of fibroblasts: un-esterified cholesterol accumulation (elthat_101212170527):