GM11503
LCL from B-Lymphocyte
Description:
VERTEBRAL ANOMALIES
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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 |
|
Biopsy Source
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Peripheral vein
|
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Cell Type
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B-Lymphocyte
|
|
Tissue Type
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Blood
|
|
Transformant
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Epstein-Barr Virus
|
|
Sample Source
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LCL from B-Lymphocyte
|
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Race
|
White
|
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Ethnicity
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ENGLISH/GERMAN
|
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Family Member
|
1
|
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Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
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 |
Classic radiologic stigmata : sht thorax with fused ribs ("crab thorax") & mult cerv, thorac, & lumbar vertebra defects including hemivert & misshapen vertebral bodies ("scrambled vertebrae"); nor urogenital system; negative family history |
| Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S, Bi-allelic loss of function variants of Journal of medical genetics56:622-628 2018 |
| PubMed ID: 31015262 |
| Split Ratio |
1:4 |
| 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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