GM20841
LCL from B-Lymphocyte
Description:
JACKSON-WEISS SYNDROME; JWS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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East Indian
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|
Relation to Proband
|
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 LINE assay |
| |
| Remarks |
Coronal craniosynostosis; short stature; digital contractions; midfacial hypoplasia; product of consanguineous marriage. |
| Split Ratio |
1:3 |
| 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 |
| Supplement |
- |
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