Description:
CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Alternate IDs |
GM18054 [CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED] |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
|
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
|
Sample Source
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DNA from LCL
|
Race
|
White
|
Family Member
|
3
|
Relation to Proband
|
brother
|
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 |
|
Remarks |
Clinically unaffected; 2 affected sibs (GM11899 and GM12127) |
dbSNP |
dbSNP ID: 11653 |
NCBI GTR |
215600 CIRRHOSIS, FAMILIAL |
OMIM |
215600 CIRRHOSIS, FAMILIAL |
Omim Description |
CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED |
|
COPPER-OVERLOAD CIRRHOSIS, INCLUDED |
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INDIAN CHILDHOOD CIRRHOSIS, INCLUDED; ICC, INCLUDED |
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SEN SYNDROME, INCLUDED |
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