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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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|
Race
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White
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|
Family Member
|
4
|
|
Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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|
ISCN
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46,XX
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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 and by Chromosome Analysis |
| |
| Remarks |
Clinically unaffected; required special education; normal chromosomes; mother of GM10273; spouse of GM10274. |
| Moore JW, Hyman S, Antonarakis SE, Mules EH, Thomas GH, Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. Hum Genet72:297-302 1986 |
| PubMed ID: 3754537 |
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