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GM22658 LCL from B-Lymphocyte

Description:

GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Affected:

Yes

Sex:

Female

Age:

60 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • 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 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

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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 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

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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 1:3
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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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