ID

45772

Description

Principal Investigator: Stephen Chanock, National Cancer Institute, National Health Institute, Bethesda, MD, USA MeSH: Neoplasm https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001112 This study investigates methylation patterns in promoter regions on the X chromosomes of females with X chromosome mosaicism in an effort to phase mosaic events to either the active or inactive X chromosome.

Link

dbGaP-study=phs001112

Keywords

  1. 6/19/23 6/19/23 - Chiara Middel
Copyright Holder

Stephen Chanock, National Cancer Institute, National Health Institute, Bethesda, MD, USA

Uploaded on

June 19, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001112 Chromosome X Mosaicism Methylation Study

Sample ID, body site where sample was obtained, analyte type [DNA], histological type of sample, and tumor status of participants involved in the "Chromosome X Mosaicism Methylation Study" project.

pht005473
Description

pht005473

Alias
UMLS CUI [1,1]
C3846158
De-identified sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Histological type [Blood, Buccal Cells, Buffy Coat, Unknown]
Description

HISTOLOGICAL_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C0449574
Body site where sample was collected [Inner Oral Cavity, Peripheral Blood; Unknown]
Description

BODY_SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type [DNA]
Description

ANALYTE_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Description

IS_TUMOR

Data type

string

Alias
UMLS CUI [1,1]
C0475752

Similar models

Sample ID, body site where sample was obtained, analyte type [DNA], histological type of sample, and tumor status of participants involved in the "Chromosome X Mosaicism Methylation Study" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005473
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
HISTOLOGICAL_TYPE
Item
Histological type [Blood, Buccal Cells, Buffy Coat, Unknown]
string
C0449574 (UMLS CUI [1,1])
BODY_SITE
Item
Body site where sample was collected [Inner Oral Cavity, Peripheral Blood; Unknown]
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type [DNA]
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
string
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not tumor (No)
CL Item
Is tumor (Yes)
C0027651 (UMLS CUI [1,1])

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