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GM22523
LCL
from
B-Lymphocyte
Description:
GLAUCOMA, PRIMARY OPEN ANGLE; POAG
Affected:
Yes
Sex:
Male
Age:
63
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
Publications
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; asthma; past history of smoking - 2 packs a day for 30 years; stopped smoking at 53 years of age; cataracts in both eyes; no glaucomatous visual field loss
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin confirmed by LINE assay
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
63 YR
Sex
Male
Racial Category
Black/African American
Data Elements
Clinical Element Type: Glaucoma
(Baseline)
Systemic Conditions
Hypertension
yes
no
unknown
Diabetes
yes
no
unknown
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
Smoking History
Smoker?
In the past
How many packs per day?
2
Smoked for how many years?
30
If you quit, at what age in years?
53
Current Medication
List systemic medications
NONE
List ocular medications
TRUSOPT (OU BID), ALPHAGAN (OU BID), XALATAN (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
N/A
Ocular Exam Results
Maximum intraocular pressure (IOP) - right eye (mm Hg)
29
Maximum intraocular pressure (IOP) - left eye (mm Hg)
31.5
Current intraocular pressure (IOP) - right eye (mm Hg)
15
Current intraocular pressure (IOP) - left eye (mm Hg)
15
Vision - right eye
20/30 -1
right eye pin hole (best corrected vision)
20/20
Vision - left eye
20/50
left eye pin hole (best corrected vision)
20/25
With correction?
yes
no
Central corneal thickness (CCT) - right eye
524
Central corneal thickness (CCT) - left eye
529
Optic Nerve (cup/disk ratio) - right eye
0.85
Optic Nerve (cup/disk ratio) - left eye
0.8 X 0.85
Gonioscopy Normal?
yes
no
Gonioscopy - right eye
C20 +1B OPEN BUT SLIGHTLY NARROW
Gonioscopy - left eye
C20 +1B OPEN BUT SLIGHTLY NARROW
Glaucomatous visual field loss - right eye
yes
no
Pattern standard deviation (PSD)- right eye
1.81
Glaucomatous visual field loss - left eye
yes
no
Pattern standard deviation (PSD) - left eye
1.98
Color vision
normal
Remarks
Clinically affected; no family history of glaucoma; asthma; past history of smoking - 2 packs a day for 30 years; stopped smoking at 53 years of age; cataracts in both eyes; no glaucomatous visual field loss
Publications
Abu-Amero KK, Hellani A, Bender P, Spaeth GL, Myers J, Katz LJ, Moster M, Bosley TM
, High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma Molecular vision15:1594-8 2009
PubMed ID:
19693294
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
1:4
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
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How to Order
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