Data · dataset · 2022
DNA analysis and LC-MS/MS data of a patient with AGel patient
Listed in ScienceDB
DNA was extracted from the patient’s whole blood treated with EDTA.
Description
Whole exome sequencing was performed on an Illumina HiSeq 2500 (Illumina, San Diego, CA). Sequencing analysis was performed by using Mutation Surveyor (SoftGenetics, www.softgenetics.com), and the GSN gene mutation was identified through comparison with the gelsolin reference sequence (GenBank accession number NM_000177.4).Congo red-positive glomeruli and renal arterioles were microdissected with laser capture techniques.
Peptides extracted from the microdissected tissue were subjected to liquid chromatography and electrospray tandem mass spectrometry (LC-MS/MS). MS raw data files were queried using the Sequest algorithm; the results were combined and assigned peptide and protein probability scores in Proteome Discoverer 1.4. Peptide identifications were accepted if they could be established at >99.0% probability as specified by the Peptide Prophet algorithm.
Links
Where it is published
- DOI doi.org/10.57760/sciencedb.02198 ↗
DOI / persistent id · from scidb cn
Catalogue records · 1
- OAI-PMH record scidb.cn/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=10.57760%2… ↗
metadata API · from scidb cn
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Genetics 69% · Mass spectrometry 75% · Sequencing 75%
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ScienceDB | 10.57760/sciencedb.02198 | 8 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| concepts[field].anzsrc:group:3105 | enrichment · scidb cn | taxonomy-embedding@1.0.0 | title+keywords+description (69%) |
| concepts[field].local:field:earth-environmental | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:engineering | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:humanities | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:social-science | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[modality].local:modality:mass-spectrometry | enrichment · scidb cn | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · scidb cn | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/description |
| license_text | source · scidb cn | connector:scidb_cn@1.0.0 | |
| publication_date | source · scidb cn | connector:scidb_cn@1.0.0 | |
| title | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/title |