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GM22295 LCL from B-Lymphocyte

Description:

GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Affected:

Yes

Sex:

Female

Age:

58 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, sister, brother and maternal grandmother are also affected; high cholesterol; gastroesophageal reflux; no history of smoking; glaucomatous visual field loss in both eyes; 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 58 YR
Sex Female
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  GASTROESOPHAGEAL REFLUX, HIGH CHOLESTEROL
Smoking History
Smoker?  Never
Current Medication
List systemic medications  NEXIUM, LIPITOR
List ocular medications  ALPHAGAN (OD BID), COSOPT (OU BID), LUMIGAN (OU QHS), TEARS (OU PRN)
Ophthalmic Procedures
Cataract extraction (CE)/Intraocular lens implant (IOL)  N/A
Laser trabeculoplasty (ALT/SLT)  Both eyes (OU)
Trabeculoplasty  Both eyes (OU)
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)  35
Maximum intraocular pressure (IOP) - left eye (mm Hg)  26
Current intraocular pressure (IOP) - right eye (mm Hg)  17
Current intraocular pressure (IOP) - left eye (mm Hg)  18
Vision - right eye  20/30
right eye pin hole (best corrected vision)  20/25
Vision - left eye  CF
left eye pin hole (best corrected vision)  NI
With correction? yes   no 
Central corneal thickness (CCT) - right eye  590
Central corneal thickness (CCT) - left eye  585
Optic Nerve (cup/disk ratio) - right eye  0.9
Optic Nerve (cup/disk ratio) - left eye  0.9
Gonioscopy Normal? yes   no 
Gonioscopy - right eye  C15F
Gonioscopy - left eye  C15F 3+PTM INFERIOR
Glaucomatous visual field loss - right eye yes   no 
Pattern standard deviation (PSD)- right eye  12.37
Glaucomatous visual field loss - left eye yes   no 
Color vision  normal
Pseudoisochromatic plates  8/10 (2 UNREADABLE)
Remarks Clinically affected; mother, sister, brother and maternal grandmother are also affected; high cholesterol; gastroesophageal reflux; no history of smoking; glaucomatous visual field loss in both eyes; 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 1:3
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
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