GM03784
LCL from B-Lymphocyte
Description:
MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
20/70 vision, photophobia; positive family history; Deutman variant; relative scotomas in both eyes; see GM03785 Fibro |
| dbSNP |
dbSNP ID: 18927 |
| NCBI Gene |
Gene ID:4167 |
| NCBI GTR |
136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 |
| OMIM |
136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 |
| Omim Description |
CENTRAL AREOLAR PIGMENT EPITHELIAL DYSTROPHY; CAPED |
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FOVEAL DYSTROPHY, PROGRESSIVE |
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MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 |
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NORTH CAROLINA MACULAR DYSTROPHY; NCMD |
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RETINAL PIGMENT EPITHELIAL DYSTROPHY, CENTRAL |
| 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 |
- |
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