GM11105
LCL from B-Lymphocyte
Description:
RETINITIS PIGMENTOSA 4; RP4
RHODOPSIN; RHO RETINITIS PIGMENTOSA, RHODOPSIN-RELATED, INCLUDED
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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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4
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Relation to Proband
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son
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
RHO |
| Chromosomal Location |
3q21-q24 |
| Allelic Variant 1 |
180380.0001; RETINITIS PIGMENTOSA 4 |
| Identified Mutation |
PRO23HIS; Dryja et al. [New Eng. J. Med. 323:1302 (1990)] were prompted to study the rhodopsin gene is cases of retinitis pigmentosa because the gene maps to the sane region of 3q where a form of retinitis pigmentosa was found to map in an Irish kindred (180100) and because rhodopsin is expressed in rod photoreceptors that are affected early in retinitis pigmentosa. In 17 of 148 unrelated patients and none of 102 unaffected individuals, Dryja et al. [New Eng. J. Med. 323:1302 (1990)] found a C-to-A transversion in codon 23 (corresponding to a proline-to-histidine substitution). |
| Remarks |
History of night blindness & visual field loss since age 18; RP diagnosed at age 23; barely recordable photopic ERG & nonrecordable rod-isolated & dark-adapted bright flash ERG; C to A transversion in exon 1, codon 23, of rhodopsin |
| Heckenlively JR, Rodriguez JA, Daiger SP, Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. Arch Ophthalmol109:84-91 1991 |
| PubMed ID: 1987955 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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