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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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,XY,der(17)(17qter>17p13::13q14>13qter)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 |
13 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (+)13q14>13qter |
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Chromosome 13: DERIVATIVE CHROMOSOME Trisomic Segment 13q14>13qter |
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Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (-)17pter>17p13 |
| Remarks |
Partial trisomy 13; severe mental and motor retardation |
| Nove J, Nichols WW, Weichselbaum RR, Little JB, Abnormalities of human chromosome 13 and in vitro radiosensitivity; a study of 19 fibroblast strains. Mutat Res84:157-67 1981 |
| PubMed ID: 7329430 |
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| Nove J, Weichselbaum RR, Nichols WW, Albert DM, Little JB, In vitro studies of fibroblasts from patients with retinoblastoma. Int Ophthalmol Clin20:211-22 1980 |
| PubMed ID: 6995388 |
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| Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980 |
| PubMed ID: 7471105 |
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| Nove J, Little JB, Weichselbaum RR, Nichols WW, Hoffman E, Retinoblastoma, chromosome 13, and in vitro cellular radiosensitivity. Cytogenet Cell Genet24:176-84 1979 |
| PubMed ID: 477414 |
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| Schinzel A, Aronson MM, Greene AE, Coriell LL, Partial trisomy for the distal long arm of chromosome 13, 46,,XY. Repository identification No. GM-1663. Cytogenet Cell Genet23:148 1979 |
| PubMed ID: 761481 |
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| Schinzel A, Schmid W, Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim Humangenetik22:287-98 1974 |
| PubMed ID: 4139096 |
| Passage Frozen |
13 |
| 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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