GM11899
LCL from B-Lymphocyte
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 |
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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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Family Member
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4
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Relation to Proband
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sister
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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 |
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| Remarks |
Clinically affected; this subject was found to be negative for mutations in the ABCB4 gene by direct sequencing of the gene exons; affected sister is GM12127 |
| dbSNP |
dbSNP ID: 11654 |
| 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 |
| Split Ratio |
1:2 |
| 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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