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GM22269 LCL from B-Lymphocyte

Description:

GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Affected:

Yes

Sex:

Male

Age:

60 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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 White
Family History Y
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; mother is also affected; hypertension; coronary artery disease with myocardial infarction; high cholesterol; current smoker : 2 packs a day for 40 years; glaucomatous visual field loss in left eye; normal color vision

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 60 YR
Sex Male
Racial Category White
 
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 
Other  HIGH CHOLESTEROL
Smoking History
Smoker?  Currently
How many packs per day?  2
Smoked for how many years?  40
Current Medication
List systemic medications  AMLODIPINE, CIALIS, DIOVAN, FLOMAX, FOLIC ACID, HCTZ, MULTI VITAMIN, LISINOPRIL, METROPROLOL TARTRATE, SIMVASTATIN, ASA, VITAMIN C
List ocular medications  COMBIGAN (OU BID), LUMIGAN (OU QHS)
Ophthalmic Procedures
Cataract extraction (CE)/Intraocular lens implant (IOL)  Both eyes (OU)
Laser trabeculoplasty (ALT/SLT)  Right eye (OD)
Trabeculoplasty  Left eye (OS)
Tube (drainage implant)  N/A
Canal oplasty  N/A
Ophthalmic Conditions
Age-related macular degeneration (AMD)  N/A
Cataracts  N/A
Diabetic retinopathy  N/A
Ocular Exam Results
Maximum intraocular pressure (IOP) - right eye (mm Hg)  30
Maximum intraocular pressure (IOP) - left eye (mm Hg)  29
Current intraocular pressure (IOP) - right eye (mm Hg)  23
Current intraocular pressure (IOP) - left eye (mm Hg)  16
Vision - right eye  20/16 -1
Vision - left eye  20/16 -1
With correction? yes  no  
Central corneal thickness (CCT) - right eye  510
Central corneal thickness (CCT) - left eye  508
Optic Nerve (cup/disk ratio) - right eye  V8H7
Optic Nerve (cup/disk ratio) - left eye  V8H7.5
Gonioscopy Normal? yes  no  
Gonioscopy - right eye  D30-35R OPEN
Gonioscopy - left eye  D30-35R OPEN
Glaucomatous visual field loss - right eye  No Data
Pattern standard deviation (PSD)- right eye  5.78
Glaucomatous visual field loss - left eye yes   no 
Pattern standard deviation (PSD) - left eye  11.36
Color vision  normal
Pseudoisochromatic plates  10/10
Remarks Clinically affected; mother is also affected; hypertension; coronary artery disease with myocardial infarction; high cholesterol; current smoker : 2 packs a day for 40 years; glaucomatous visual field loss in left eye; normal color vision

Publications

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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

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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

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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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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