|
| Status |
Public on Apr 05, 2021 |
| Title |
Familial Thrombocyotpenia due to a WAC-ANKRD26 Gene Fusion |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Human peripheral blood mononuclear cells from patients carrying a WAC-ANKRD26 gene fusion caused by a duplication-inversion-duplication and healthy controls
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| |
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| Overall design |
3 individuals affected with dup-inv-dup, 3 healthy controls. RNA was isolated using a RNeasy Micro kit (Qiagen) according to the manufacturer’s instructions. An on-column DNase digestion was performed before RNA was quantified using a Qubit RNA HS Assay kit (Invitrogen). ~10 ng of RNA was used as input to a modified SMART-seq2 protocol and after reverse transcription, 10 cycles of PCR were used to amplify transcriptome library12,14,15. Quality of whole transcriptome libraries was validated using a High Sensitivity DNA Chip run on a Bioanalyzer 2100 system (Agilent), followed by library preparation using the Nextera XT kit (Illumina) and custom index primers according to the manufacturer’s instructions. Final libraries were quantified using a Qubit dsDNA HS Assay kit (Invitrogen) and a High Sensitivity DNA chip run on a Bioanalyzer 2100 system (Agilent). All libraries were sequenced using Nextseq High Output Cartridge kits and a Nextseq 500 sequencer (Illumina).
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| |
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| Contributor(s) |
Wahlster L, Verboon JM, Sankaran VG |
| Citation(s) |
33857290 |
| NIH grant(s) |
| Grant ID |
Grant title |
Affiliation |
Name |
| R01 DK103794 |
Systematic Genetic Dissection of Human Erythropoiesis |
CHILDREN'S HOSPITAL |
Vijay Ganesh Sankaran |
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| |
| Submission date |
Feb 09, 2021 |
| Last update date |
May 12, 2021 |
| Contact name |
Vijay Sankaran |
| Organization name |
Boston Children's Hospital
|
| Street address |
1 Blackfan Cr
|
| City |
Boston |
| State/province |
MA |
| ZIP/Postal code |
02115 |
| Country |
USA |
| |
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| Platforms (1) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
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| Samples (6)
|
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| Relations |
| BioProject |
PRJNA700845 |
| SRA |
SRP305469 |
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