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ID
45643
Beschrijving
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.
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- 13-03-23 13-03-23 - Chiara Middel
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Kenneth Fischbeck, MD, National Institutes of Health, Bethesda, MD, USA
Geüploaded op
13 maart 2023
DOI
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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.
Similar models
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.
Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])
Elig.phs001322.v2.p1.1
Item
*Inclusion criteria:* Members of a family with a history of inherited motor neuron disease.
boolean
C1512693 (UMLS CUI [1,1])
C0241889 (UMLS CUI [1,2])
C0270763 (UMLS CUI [1,3])
C0241889 (UMLS CUI [1,2])
C0270763 (UMLS CUI [1,3])