|
| Status |
Public on Dec 18, 2013 |
| Title |
Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function |
| Organism |
Homo sapiens |
| Experiment type |
Non-coding RNA profiling by high throughput sequencing
|
| Summary |
We elucidate a neurological syndrome affecting both the PNS and CNS defined by CLP1 mutations that impair tRNA splicing
|
| |
|
| Overall design |
Identification and biochemical characterization of mutant CLP1 in human patients
|
| |
|
| Contributor(s) |
Martinez J, Tuschl T |
| Citation(s) |
24766809 |
| Submission date |
Dec 17, 2013 |
| Last update date |
Jul 04, 2020 |
| Contact name |
Miguel Brown |
| E-mail(s) |
miguel.a.brown@gmail.com
|
| Organization name |
The Rockefeller University
|
| Street address |
1230 York Ave Box 186
|
| City |
New York |
| State/province |
New York |
| ZIP/Postal code |
10065 |
| Country |
USA |
| |
|
| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
|
| Samples (4)
|
| GSM1290723 |
healthy parent T1, wild-type CLP1 |
| GSM1290724 |
healthy parent T2, wild-type CLP1 |
| GSM1290725 |
child patient T3 (microcephaly), mutation CLP1 R140H |
| GSM1290726 |
child patient T4 (microcephaly), mutation CLP1 R140H |
|
| Relations |
| BioProject |
PRJNA231905 |
| SRA |
SRP034547 |
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