GM18241
LCL from B-Lymphocyte
Description:
XXY SYNDROME; KLINEFELTER SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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NORTHERN EUROPEAN
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XXY[17].ish X (DXZ1x2).ish Y (SRYx1)/47,XYY[28].ish X (DXZ1x1).ish Y (SRYx2)/46,XY[5].ish X (DXZ1x1).ish Y (SRYx1)
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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; tall; clinodactyly of the left hand; high arches on feet; small penis; small testes, hypoplastic tubules, and diminished Leydig cells;mild myopia; removal surgery for gynecomastia; low energy and low sex drive; anxiety |
| 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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