Description:
TRANSLOCATED 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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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Family Member
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1
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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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46,XX,der(21)(21qter>21p11::Xq11>Xqter)mat
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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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| Passage Frozen |
17 |
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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 |
| |
| Cytogenetics |
Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21pter>21p11 |
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Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (+)Xq11>Xqter |
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Chromosome X: DERIVATIVE CHROMOSOME Trisomic Segment Xq11>Xqter |
| Remarks |
Mental retardation & multiple anomalies; 1 normal X & the translocated X are late replicating |
| Summitt RL, Martens PR, Wilroy RS Jr, X-autosome translocation in normal mother and effectively 21-monosomic daughter. J Pediatr84:539-46 1974 |
| PubMed ID: 4834247 |
| Passage Frozen |
17 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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