Description:
COWDEN DISEASE; CD
PHOSPHATASE AND TENSIN HOMOLOG; PTEN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
| 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
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2
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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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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 |
| |
| Gene |
PTEN |
| Chromosomal Location |
10q23.31 |
| Allelic Variant 1 |
Q261X; COWDEN DISEASE |
| Identified Mutation |
GLN261TER |
| Remarks |
Fertility problems, fibroid tumors, & a breast tumor; son (GM10080) is also affected; donor subject is heterozygous for a C>T transition at nucleotide 781 of the PTEN gene (c.781C>T)resulting in a stop codon at 261 [Gln261Ter (Q261X)] |
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