Overview

Collection	NIGMS Human Genetic Cell Repository
Subcollection	Apparently Healthy Collection
Sample Description	PERSONAL GENOME PROJECT
Biopsy Source	Peripheral vein
Cell Type	B-Lymphocyte
Tissue Type	Blood
Transformant	Epstein-Barr Virus
Species	Homo sapiens
Common Name	Human
Age At Sampling	52 YR
Sex	Male
Race	Caucasian
Family	2982
Family Member	1
Relation to Proband	proband
Clinically Affected	No
ISCN	47,XY,+9[2]/46,XY[48]
Remarks	Participant #5 in the Personal Genome Project: http://www.personalgenomes.org Matching fibroblast culture from this same subject is GM23250
Catalog ID	GM21687
Product	Cell Culture
Pricing	Commercial Pricing: $85.00 Academic and not-for-profit pricing: $85.00
Catalog ID	NA21687
Product	DNA
Quantity	50 µg
Source	cell culture
Pricing	Commercial Pricing: $55.00 Academic and not-for-profit pricing: $55.00
How to Order	Online Ordering Assurance Form (Must have current form on file) Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)

Characterizations

Sample Description	PERSONAL GENOME PROJECT
IDENTIFICATION OF SPECIES OF ORIGIN	Species of Origin confirmed by LINE assay
DNA Profile
D10S526	230, 254
D22S417	177, 201
D5S592	178, 190
FES/FPS	220, 224
THO-1	159, 171
VWA31	149, 149

Phenotypic Data

Demographic Data
Relation to Proband	proband
Subject Currect Age	52 YR
Gender	Male
Age of Onset(If not a control)	No Data
Age at Diagnosis(If not a control)	No Data
Hispanic or Latino/Not Hispanic or Latino	not yet reported
Racial Category	Caucasian
Country	No Data
Diagnosed By	No Data
Data Elements
Clinical Element Type: Church PHGP
(Baseline)
Vital Signs
Blood Type	A+
Height	5'10"
Weight	155
Blood Pressure - Systolic (mm Hg)	130
Blood Pressure - Diastolic (mm Hg)	82
Allergies
Substance	NONE
Reaction to Substance	No Data
Medications, Vitamins, Supplements
Medication	SIMVASTATIN (40MG QD)
Medical History
Summary Paragraph	BORN 1955 IN KANAB, UTAH. HOSPITALIZED WITHIN 1ST YEAR FOR DIARRHEA/DEHYDRATION. MONONUCEOSIS AT AGE 16. FREQUENT STREP INFECTIONS/TONSILITIS AS A TEENAGER WITH TONSILECTOMY AT AGE 22. PRIMARY CMV INFECTION AT AGE 26 REQUIRING HOSPITALIZATION. ACUTE APPENDICITIS WITH APPENDECTOMY AT AGE 42. BASAL CELL CARCINOMA OF THE RIGHT TEMPORAL AREA AT AGE 45. LYMPHANGIOMA EXCISED FROM LEFT GROIN AT AGE 46 (RECURRENT). HYPERCHOLESTEROLEMIA DIAGNOSED AROUND AGE 40 AND TREATED WITH STATIN THERAPY AND EXERCISE. SEVERAL HEALED FRACTURES; S/P LEFT ACL REPLACEMENT X 3.
Medical Condition	RECURRENT LYMPHANGIOMA, HYPERCHOLESTEROLEMIA
Race, Ethnicity, Ancestry
Race	WHITE
Country of Origin - Subject	USA
Country of Origin - Paternal Grandfather	USA
Country of Origin - Paternal Grandmother	USA
Country of Origin - Maternal Grandfather	USA
Country of Origin - Maternal Grandmother	USA
Traits
Eye Color	blue
Dominant Hand	right
Near-sighted	Yes   No
Far-sighted	Yes  No
Wear Prescription Glasses	Yes  No
Remark	Participant #5 in the Personal Genome Project: http://www.personalgenomes.org Matching fibroblast culture from this same subject is GM23250

Publications

Data are not available

External Links

Data are not available

Images

View	karyotype met39
	karyotype met44

Culture Protocols

Split Ratio	1:4
Temperature	37 C
Percent CO2	5%
Medium	Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine
Serum	15% fetal bovine serum Not Inactivated
Substrate	None specified
Subcultivation Method	dilution - add fresh medium