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MB Sample ID: SA010752

Local Sample ID:SVM0322
Subject ID:SU000242
Subject Type:Human
Subject Species:Homo sapiens
Taxonomy ID:9606
Species Group:Human

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Subject:

Subject ID:SU000242
Subject Type:Human
Subject Species:Homo sapiens
Taxonomy ID:9606
Species Group:Human

Factors:

Local Sample IDMB Sample IDFactor Level IDLevel ValueFactor Name
SVM0322SA010752FL002568CaseType

Collection:

Collection ID:CO000230
Collection Summary:All participants have been carefully phenotyped and have a molecular confirmation of BTHS. In order to mitigate the potential effects of intercurrent illness in individual patients, plasma samples were collected under controlled conditions, while the patient is in a homeostatic state of wellness (outpatient setting). We controlled for nutritional effects by selecting samples hta thave amino acid profiles consistent with 4-6 hours of fasting. All samples were collected in an EDTA treated collection tube, plasma was separated via centrifugation and has been stored in a controlled setting at -80 degrees Celsius since collection.
Sample Type:Blood

Treatment:

Treatment ID:TR000250
Treatment Summary:none

Sample Preparation:

Sampleprep ID:SP000244
Sampleprep Summary:Aliquots of plasma samples (125 µL) were transferred into pre-labeled 2.0 mL low-bind Eppendorf tubes for experimental samples. For all samples 125 µL of 0.9% Saline in D2O (containing 2 mM Formate (chemical shift indicator) and 0.2% NaN3 (to prevent bacterial growth)) was added to each tube and were vortexed for 2 min at 5000 rpm. The samples were then centrifuged at 16,000 rcf for 2 min. Total pools of the samples were prepared (by using 12 µL of each study sample) to serve as QC samples, and 125 µL aliquots of QC samples were processed in the same way as described above for study samples. A 200 µL aliquot of the samples were then transferred into 3 mm NMR tubes (Bruker-Biospin, Switzerland), which were kept in a cooler with freeze packs until data acquisition.
Processing Storage Conditions:4°C
Sample Resuspension:0.9% Saline in D2O
Sample Spiking:Formate

Analysis:

MB Sample ID:SA010752
Analysis ID:AN000332
Laboratory Name:DHMRI
Analysis Type:NMR
Software Version:Top Spin 3.2
Operator Name:Keven Knagge, Wimal Pathmasiri
Randomization Order:Yes
Detector Type:NMR
Data Format:Bruker FID
Chromatography ID:CH000249
Num Factors:3

NMR:

NMR ID:NM000053
Analysis ID:AN000332
Instrument Name:Bruker Avance III
Instrument Type:FT-NMR
NMR Experiment Type:1D 1H
Pulse Sequence:Yes
Pulse Width:41967
Power Level:Deuterium
Receiver Gain:1 mM (Formate)
Offset Frequency:950 MHz
Presaturation Power Level:5mm Cryogenically Cooled ATMA
Chemical Shift Ref Cpd:D20
Temperature:5mm
Number Of Scans:Topshim (Gradient)
Dummy Scans:cpmgpr1d
Acquisition Time:yes
Relaxation Delay:8.11
Spectral Width:12.589 W
Num Data Points Acquired:4
Real Data Points:4468.1 Hz
Zero Filling:Formate
Apodization:298 K
Baseline Correction Method:128
Chemical Shift Ref Std:16
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