Personal Genome Project

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Public Profile -- hu5FA322

Public profile url: https://my-dev.pgp-hms.org/profile/hu5FA322

Personal Health Records

None added.

Samples

PGP Blood Collection Sample 9809588 (whole blood) mailed 2012-04-25 22:30:00 UTC by hu5FA322.   Show log
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:38 UTC Harvard University Sample sent
2012-04-24 20:25:40 UTC Harvard University Sample created
Sample 61581624 (whole blood) mailed 2012-04-25 22:30:00 UTC by hu5FA322.   Show log
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:38 UTC Harvard University Sample sent
2012-04-24 20:25:40 UTC Harvard University Sample created
Sample 38191598 (whole blood) received 2012-05-02 13:49:02 UTC by Coriell.   Show log
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-04-25 22:30:00 UTC Harvard University Sample shipped to Coriell
2012-04-25 21:00:00 UTC Harvard University Sample received by researcher
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:39 UTC Harvard University Sample sent
2012-04-24 20:25:40 UTC Harvard University Sample created
Sample 8226051 (whole blood) received 2012-05-02 13:49:01 UTC by Coriell.   Show log
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-05-02 13:49:01 UTC Coriell Sample received by researcher
2012-04-25 22:30:00 UTC Harvard University Sample shipped to Coriell
2012-04-25 21:00:00 UTC Harvard University Sample received by researcher
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:39 UTC Harvard University Sample sent
2012-04-24 20:25:40 UTC Harvard University Sample created
Sample 32619745 (whole blood) received 2012-05-02 13:49:02 UTC by Coriell.   Show log
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-04-25 22:30:00 UTC Harvard University Sample shipped to Coriell
2012-04-25 21:00:00 UTC Harvard University Sample received by researcher
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:39 UTC Harvard University Sample sent
2012-04-24 20:25:40 UTC Harvard University Sample created

Uploaded data

Date Data type Source Name Download Report
2012-05-28 persoanl Participant 5FA322 Genetic data Download
(874 Bytes)

Geographic Information

State:New York
Zip code:13346

Family Members Enrolled

None added.

Surveys

PGP Participant Survey Responses submitted 3/4/2012 15:06:10. Show responses
Timestamp 3/4/2012 15:06:10
Year of birth 70-79 years
Which statement best describes you? I am comfortable making my genome sequence data publicly available without prior review.
Severe disease or rare genetic trait Yes
Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. atypical porphyria (affects all systems - used for the rest of questions) mitochondria deletions/ROS/frail inner membranes aortic aneurysms double null - GST poor metabolizer - CYP2C19 NAT2 - catalytically inefficient cancer - prostrate/uterine
Disease/trait: Onset 10-19 years of age
Disease/trait: Rarity Uncommon
Disease/trait: Severity Very severe disease
Disease/trait: Relative enrollment Maybe
Disease/trait: Diagnosis Yes
Disease/trait: Genetic confirmation Yes
Disease/trait: Documentation Yes
Disease/trait: Documentation description mitochondria mDNA analysis, EEGs, N-acetyl transferase, double null GST,
Sex/Gender Female
Race/ethnicity White
Maternal grandmother: Country of origin United States
Paternal grandmother: Country of origin Canada
Paternal grandfather: Country of origin Canada
Maternal grandfather: Country of origin United States
Enrollment of relatives No
Enrollment of older individuals Yes
Enrollment of parents No
Have you uploaded genetic data to your PGP participant profile? No, but I have genetic data and plan to upload it
Have you used the PGP web interface to record a designated proxy? Yes
Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? No, but I plan to
Blood sample Yes
Saliva sample Yes
Microbiome samples Yes
Tissue samples from surgery No
Tissue samples from autopsy Yes

Absolute Pitch Survey [see all responses]

Can tell if notes are in tune: Yes
Can sing a melody on key: Yes
Can recognize musical intervals: Yes
Do you have absolute pitch? Not sure

Enrollment History

Participant ID:hu5FA322
Account created:2012-02-21 21:55:32 UTC
Eligibility screening:2012-02-21 22:07:04 UTC (passed v2)
Exam:2012-02-29 00:20:03 UTC (passed v2)
Consent:2015-08-06 14:07:30 UTC (passed v20150505)
Enrolled:2012-02-29 01:40:50 UTC