ID
45643
Descrizione
Principal Investigator: Kenneth Fischbeck, MD, National Institutes of Health, Bethesda, MD, USA MeSH: Amyotrophic Lateral Sclerosis 4, Juvenile https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001322 Sequencing data from primary fibroblasts were obtained from individuals with a family history of an inherited form of motor neuron disease.
collegamento
Keywords
versioni (1)
- 13/03/23 13/03/23 - Chiara Middel
Titolare del copyright
Kenneth Fischbeck, MD, National Institutes of Health, Bethesda, MD, USA
Caricato su
13 marzo 2023
DOI
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Licenza
Creative Commons BY 4.0
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dbGaP phs001322 NINDS Inherited Forms of Motor Neuron Disease Study
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and case control status of the subject for amyotrophic lateral sclerosis type 4 (ALS4) disease.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table contains subject ID, disease onset age, medical history, sex, race, weakness, and serum creatine kinase level.
- This sample attributes table contains sample IDs, body site where sample was collected, analyte type, tumor status, histological type, and name of the center which conducted sequencing.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and case control status of the subject for amyotrophic lateral sclerosis type 4 (ALS4) disease.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table contains subject ID, disease onset age, medical history, sex, race, weakness, and serum creatine kinase level.
- This sample attributes table contains sample IDs, body site where sample was collected, analyte type, tumor status, histological type, and name of the center which conducted sequencing.
C0680251 (UMLS CUI [1,2])
C0241889 (UMLS CUI [1,2])
C0270763 (UMLS CUI [1,3])