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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White
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Ethnicity
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GREEK
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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,XY,t(2;4)(2pter>2q14::4q31.3>4qter; 4pter>4q31.1::2q14>2qter)
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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 |
16 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 2: TRANSLOCATION Breakpoint 2q14 t(2;4)2q14 |
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Chromosome 4: TRANSLOCATION Breakpoint 4q31 t(2;4)4q31 |
| Remarks |
Mental retardation; facial dysmorphy; unusual dermatoglyphics; hemizygous at MN blood group locus; deletion of 4q31.1q31.3 |
| German, Further evaluation of a child with the M(k) phenotype and a translocation affecting the long arm of chromosomes 2 and 4. Cytogenet Cell Genet25:160 (1979): 1979 |
| PubMed ID: |
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| German J, Walker ME, Stiefel FH, Allen FH Jr, MN blood-group locus: data concerning the possible chromosomal location. Science162:1014-5 1968 |
| PubMed ID: 5698839 |
| Passage Frozen |
16 |
| 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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