GM14001
LCL from B-Lymphocyte
Description:
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
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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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Ethnicity
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AMISH
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Family Member
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2
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Relation to Proband
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brother
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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 |
Amish; donor died of a disorder clinically diagnosed as nemaline myopathy with features of troponin T1 myopathy as described in the Amish (Johnston JJ et al. Am J Hum Genet 2000; 67:814-821); he was free of cholestasis; 2 sibs with Byler disease and 2 sibs with nemaline myopathy |
| Carlton VE, Knisely AS, Freimer NB, Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet4:1049-53 1995 |
| PubMed ID: 7655458 |
| Split Ratio |
1:5 |
| 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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