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GM22807 LCL from B-Lymphocyte

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

52 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
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 normal; arthritis; no past history of smoking; cataracts in both eyes; no glaucomatous visual field loss; 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 52 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?  Never
Current Medication
List systemic medications  IBUPROFEN
List ocular medications  NONE
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)  UNKNOWN
Maximum intraocular pressure (IOP) - left eye (mm Hg)  UNKNOWN
Current intraocular pressure (IOP) - right eye (mm Hg)  11
Current intraocular pressure (IOP) - left eye (mm Hg)  11
Vision - right eye  20/30 +2
right eye pin hole (best corrected vision)  NI
Vision - left eye  20/25 +2
left eye pin hole (best corrected vision)  NI
With correction? yes  no  
Central corneal thickness (CCT) - right eye  533
Central corneal thickness (CCT) - left eye  540
Optic Nerve (cup/disk ratio) - right eye  0.2
Optic Nerve (cup/disk ratio) - left eye  0.15
Gonioscopy Normal? yes  no  
Gonioscopy - right eye  D35R OPEN
Gonioscopy - left eye  D35R OPEN
Glaucomatous visual field loss - right eye yes  no  
Pattern standard deviation (PSD)- right eye  2.92
Glaucomatous visual field loss - left eye yes  no  
Pattern standard deviation (PSD) - left eye  2.96
Color vision  normal
Pseudoisochromatic plates  10/10
Remarks Clinically normal; arthritis; no past history of smoking; cataracts in both eyes; no glaucomatous visual field loss; normal color vision

Publications

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Balderston S, Taulbee JJ, Celaya E, Fung K, Jiao A, Smith K, Hajian R, Gasiunas G, Kutanovas S, Kim D, Parkinson J, Dickerson K, Ripoll JJ, Peytavi R, Lu HW, Barron F, Goldsmith BR, Collins PG, Conboy IM, Siksnys V, Aran K, Discrimination of single-point mutations in unamplified genomic DNA via Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering: 2020
PubMed ID: 33820980
 
Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L, Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project The Journal of molecular diagnostics : JMD23:103-110 2020
PubMed ID: 33197628
 
Hajian R, Balderston S, Tran T, deBoer T, Etienne J, Sandhu M, Wauford NA, Chung JY, Nokes J, Athaiya M, Paredes J, Peytavi R, Goldsmith B, Murthy N, Conboy IM, Aran K, Detection of unamplified target genes via CRISPR-Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering3:427-437 2018
PubMed ID: 31097816

Culture Protocols

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Split Ratio 1:5
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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