GM05345
Fibroblast from Skin, Unspecified
Description:
RETINITIS PIGMENTOSA; RP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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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| Remarks |
Clinically affected; decreased night vision since age 14; intermittent visual defects in peripheral field since age 18-19; siderotic vitreous cavity with a few pigmented cells; fundus exam revealed marked arteriolar attenuation, optic nerve pallor, and generalized pigmentary stippling; some surface wrinkling retinopathy in the posterior pole of both eyes; focal areas of bone corpuscular pigmentation; visual fields showed large mid-peripheral scotoma; sister has problems with night vision; ERG was extinguished for both eyes; EOG was flat bilaterally; see GM05346 Lymphoid |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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