GM20572
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP |
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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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,X,t(X;17)(p11.23;p11.2)
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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 |
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| Cytogenetics |
Chromosome 17: TRANSLOCATION Breakpoint 17p11.2 |
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Chromosome X: TRANSLOCATION Breakpoint Xp11.23 |
| Remarks |
Mild developmental delay (sat at 1 year, walked at 2 years, delayed speech with two to three word phrases, rarely sentences); mild synophyrys; flat philtrum and thin upper lip; behavior problems (including temper tantrums, self-biting, sleep disturbance and agitation) |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Supplement |
- |
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