GM06626
LCL from B-Lymphocyte
Description:
INVERTED CHROMOSOME
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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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Black/African American
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,X,inv(X)(pter>p11.4::q22.1>p11.4:: q22.1>qter)[36]/47,XX,+inv(X)(pter>11.4:: q22.1>p11.4::q22.1>qter)[14]
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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 and by Chromosome Analysis |
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| Cytogenetics |
Chromosome X: ANEUPLOID Breakpoint Xp11 inv(X)Xp11 |
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Chromosome X: ANEUPLOID Breakpoint Xq22 inv(X)Xq22 |
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Chromosome X: INVERSION Breakpoint Xp11 inv(X)Xp11 |
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Chromosome X: INVERSION Breakpoint Xq22 inv(X)Xq22 |
| Remarks |
Phenotypically normal; 2 sons have same inv(X); 28% of cells have additional X chromosome; in all cells the inv(X) was late labelling |
| Bailey SM, Meyne J, Cornforth MN, McConnell TS, Goodwin EH, A new method for detecting pericentric inversions using COD-FISH. Cytogenet Cell Genet75:248-53 1996 |
| PubMed ID: 9067435 |
| 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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