| Accession | HRS1188558 |
|---|---|
| BioSample Accession | SAMC3448399 |
| Individual accession | HRI931178 |
| Study accession | HRA006913 |
| Sample name | III-9 blood |
| Title | III-9 blood |
| Collection date | 2023-09-01 |
| Sample Type | Disease |
| Description | The proband exhibited typical clinical manifestation of PSP. A gene test by whole-exome sequencing identified a novel heterozygous deletion (G342L MAPT mutation), and the same mutation was also identified in one affected relative and one asymptomatic relative, a probable pre-symptomatic carrier. |