|
| Status |
Public on Feb 22, 2018 |
| Title |
SAMHD1 is recurrently mutated in T-cell prolymphocytic leukemia [RNA-seq] |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
We identified novel recurrent genetic lesions in T-PLL affecting genes involved in JAK/STAT signaling (PTPRC), epigenetic regulation (PRDM2), or DNA damage repair (SAMHD1, PARP10, HERC1, HERC2). Mutations of the tumor suppressor gene SAMHD1 causing amino-acid exchanges or protein truncations as well as copy number variations in SAMHD1 were seen in 20% of cases.
|
| |
|
| Overall design |
RNA sequencing (Illumina HiSeq 2500) of 10 index patients compared to 5 healthy donors (controls).
|
| |
|
| Contributor(s) |
Klein-Hitpass L, Johansson P |
| Citation(s) |
29352181, 33117517 |
| |
| Submission date |
Jul 06, 2017 |
| Last update date |
Nov 02, 2020 |
| Contact name |
Ludger Klein-Hitpass |
| E-mail(s) |
ludger.klein-hitpass@uni-essen.de
|
| Phone |
+49 201 723 85552
|
| Organization name |
Institut fuer Zellbiologie
|
| Department |
Universitaetsklinikum
|
| Lab |
BioChip Lab
|
| Street address |
Virchowstr. 173
|
| City |
Essen |
| ZIP/Postal code |
D-45122 |
| Country |
Germany |
| |
|
| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
|
| Samples (15)
|
|
| Relations |
| BioProject |
PRJNA395211 |
| SRA |
SRP113226 |
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