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| Status |
Public on Feb 03, 2023 |
| Title |
Generation and characterization of NGLY1 patient-derived midbrain organoids |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
NGlY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including global developmental delay, motor disorder, and liver dysfunction. To better understand disease pathogensis and neurological symptoms of NGLY1 deficiency we generated and characterized midbrain organoids using patient-derived iPSCs from two patients with disease causing mutations.
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| |
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| Overall design |
RNA-seq was performed on wild-type midbrain organoids, NGLY1-Knockout and two NGLY1 deficient midbrain organoids generated from patient derived iPSCs.
|
| Web link |
https://pubmed.ncbi.nlm.nih.gov/36875753/
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| |
|
| Contributor(s) |
Zheng W, Abbott J |
| Citation(s) |
36875753 |
| |
| Submission date |
Feb 01, 2023 |
| Last update date |
May 05, 2023 |
| Contact name |
Wei Zheng |
| E-mail(s) |
wzheng@mail.nih.gov
|
| Organization name |
National Institutes of Health
|
| Department |
National Center for Translational Sciences
|
| Lab |
TDB Biology
|
| Street address |
9800 Medical Center Dr
|
| City |
Rockville |
| State/province |
MD |
| ZIP/Postal code |
20850 |
| Country |
USA |
| |
|
| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
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| Samples (18)
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| Relations |
| BioProject |
PRJNA930476 |
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