GM05300
Fibroblast from Skin, Buttock
Description:
LEBER CONGENITAL AMAUROSIS 1; LCA1
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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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Buttock
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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, Buttock
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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; parents noticed that child did not appear to see objects at about 3 months of age; at about 5 months of age did not show normal fixing and following characteristics; fixing and following characterisitcs were noted at 9 months of age; inability to see relative small objects at 9 months; fundus exam normal at 9 months of age; kinetic nystagmus; pepper and salt pigmentary changes; hyperopia; 8 diopters; ERG extinguished in both eyes under both photopic and scotopic conditions; see GM05301 lymphoid |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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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