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GM22658
LCL
from
B-Lymphocyte
Description:
GLAUCOMA, PRIMARY OPEN ANGLE; POAG
Affected:
Yes
Sex:
Female
Age:
60
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
Black/African American
Family History
N
Relation to Proband
proband
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; no family history of glaucoma; hypertension; noninsulin-dependent diabetes with onset at 44 years of age; hypothyroidism; high cholesterol; cataracts in both eyes; diabetic retinopathy in both eyes; no history of smoking; glaucomatous visual field loss in left eye; normal color vision
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin confirmed by LINE assay
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
60 YR
Sex
Female
Racial Category
Black/African American
Data Elements
Clinical Element Type: Glaucoma
(Baseline)
Systemic Conditions
Hypertension
yes
no
unknown
Diabetes
yes
no
unknown
If yes, give age at onset in years.
44
Insulin-dependent?
yes
no
Coronary artery disease
yes
no
unknown
Had myocardial infarction (MI)?
yes
no
Congestive heart disease
yes
no
unknown
Chronic obstructive pulmonary disease (COPD)
yes
no
unknown
Asthma
yes
no
unknown
Thyroid (hypothyroidism)
yes
no
unknown
Rheumatoid arthritis
yes
no
unknown
Osteoarthritis
yes
no
unknown
Arthritis, unspecified
yes
no
unknown
Migraines
yes
no
unknown
Other
HIGH CHOLESTEROL
Smoking History
Smoker?
Never
Current Medication
List systemic medications
GLYBURIDE, METFORMIN, LISINOPRIL, HCTZ, VITAMIN D, MAGNESIUM, OMEGA 3
List ocular medications
TRAVATAN (2 OU QHS)
Ophthalmic Procedures
Cataract extraction (CE)/Intraocular lens implant (IOL)
N/A
Laser trabeculoplasty (ALT/SLT)
N/A
Trabeculoplasty
N/A
Tube (drainage implant)
N/A
Canal oplasty
N/A
Ophthalmic Conditions
Age-related macular degeneration (AMD)
N/A
Cataracts
Both eyes (OU)
Diabetic retinopathy
Both eyes (OU)
Ocular Exam Results
Maximum intraocular pressure (IOP) - right eye (mm Hg)
28
Maximum intraocular pressure (IOP) - left eye (mm Hg)
28
Current intraocular pressure (IOP) - right eye (mm Hg)
17
Current intraocular pressure (IOP) - left eye (mm Hg)
17.5
Vision - right eye
20/20
Vision - left eye
20/20
With correction?
yes
no
Central corneal thickness (CCT) - right eye
526
Central corneal thickness (CCT) - left eye
512
Optic Nerve (cup/disk ratio) - right eye
0.6
Optic Nerve (cup/disk ratio) - left eye
0.7
Gonioscopy Normal?
yes
no
Gonioscopy - right eye
D40F OPEN
Gonioscopy - left eye
D40F OPEN
Glaucomatous visual field loss - right eye
yes
no
Pattern standard deviation (PSD)- right eye
1.39
Glaucomatous visual field loss - left eye
yes
no
Pattern standard deviation (PSD) - left eye
2.59
Color vision
normal
Pseudoisochromatic plates
10/10
Remarks
Clinically affected; no family history of glaucoma; hypertension; noninsulin-dependent diabetes with onset at 44 years of age; hypothyroidism; high cholesterol; cataracts in both eyes; diabetic retinopathy in both eyes; no history of smoking; glaucomatous visual field loss in left eye; normal color vision
External Links
NCBI GTR
137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
OMIM
137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
Omim Description
GLAUCOMA 1, OPEN ANGLE, B; GLC1B
GLAUCOMA, HEREDITARY ADULT
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG
Culture Protocols
Split Ratio
1:3
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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