GM06830
LCL from B-Lymphocyte
Description:
ANIRIDIA 1; AN1
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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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Relation to Proband
|
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 Chromosome Analysis |
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| Remarks |
Clinically affected; bilateral aniridia; pupils were noted to be large at birth and were non-reactive to light; no nystagmus; discs somewhat grayish; hypoplastic maculae; dolichocephaly; bilateral clubfoot; small hydrocele; renal ultrasound normal; no Wilm's tumor at age 4 years; intellectually normal; normal catalase; no 11p deletion. |
| Marshall, Aniridia and the 11p13 deletion. Am J Hum Genet34:74A (1982): 1982 |
| PubMed ID: |
| Split Ratio |
1:3 |
| 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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