Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.It is typically associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. This IPS cell induced from patient fibroblasts which harbors trisomy chrosome 21, will provide a platform for new drug/methods of DS.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Down Syndrome (DS) |
| Target Gene | Human chromosome 21 (Hsa21) |
| Gene Function | / |
| Mutation | Trisomy 21 |
| Phenotype | As adults, their mental abilities are typically similar to those of an 8- or 9-year-old.They also typically have poor immune function and generally reach developmental milestones at a later age.They have an increased risk of a number of other health problems, including congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders. |
| Source | Fibroblasts |
| Cellular Assays | Immunohistochemistry and AP staining, Fingerprinting analysis |
| Target Gene | |
|---|---|
| Gene ID | / |
| Uniprot ID | / |
For Research Use Only. Not For Clinical Use.
