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GM27138 LCL from B-Lymphocyte

Description:

BEHCET SYNDROME

Affected:

Yes

Sex:

Female

Age:

53 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
PIGI Consented Sample
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Ethnicity Hungarian, Belgian, German, French, English
Country of Origin USA
Family History Y
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; Symptoms include: uveitis, ulcers, joint pain and inflammation, vulvar ulcers, kidney failure, ulcerative colitis, and blindness; Assistive devices include: wheelchair, use of guide dog, and oxygen; Medications include: Metoprolol, Diazepam, and Fentanyl Transdermal Patch; Has undergone laser eye surgery, and have had cataract surgery twice; Son is also clinically affected (not listed in catalog).

Characterizations

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

Phenotypic Data

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Remarks Clinically affected; Symptoms include: uveitis, ulcers, joint pain and inflammation, vulvar ulcers, kidney failure, ulcerative colitis, and blindness; Assistive devices include: wheelchair, use of guide dog, and oxygen; Medications include: Metoprolol, Diazepam, and Fentanyl Transdermal Patch; Has undergone laser eye surgery, and have had cataract surgery twice; Son is also clinically affected (not listed in catalog).

External Links

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NCBI GTR 109650 BEHCET SYNDROME
OMIM 109650 BEHCET SYNDROME
Omim Description BEHCET SYNDROME

Culture Protocols

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Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 20% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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How to Order
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