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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Relation to Proband
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parent
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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,t(1;4)(1pter>1q32::4p16>4pter; 4qter>4p16::1q32>1qter)
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1q32 t(1;4)1q32 |
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Chromosome 4: TRANSLOCATION Breakpoint 4p16 t(1;4)4p16 |
| Remarks |
Two daughters with congenital anomalies died shortly after birth |
| Vailly J, Szepetowski P, Mattei MG, Pedeutour F, Burgeson R, Ortonne JP, Meneguzzi G, The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31. Genomics21:286-8 1994 |
| PubMed ID: 8088808 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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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