Description:
CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| 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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
A sister died at age 17 days of congenital cirrhosis/hepatic failure; below the 3rd %ile for weight, length, & head circumference; giant cell neonatal hepatitis; general urine aminoaciduria; normal alpha-1-antitrypsin; see GM08197 Fibro |
| dbSNP |
dbSNP ID: 11091 |
| NCBI GTR |
215600 CIRRHOSIS, FAMILIAL |
| OMIM |
215600 CIRRHOSIS, FAMILIAL |
| Omim Description |
CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED |
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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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