Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
|
White
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Relation to Proband
|
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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47,XX,t(13;15)(q21.3;q13),+der(15)t(13;15)(q21.3;q13)pat.arr 13q21.32q34(66996489-114126487)x3,15q11.1q11.2(18276328-22055238)x3,15q11.2(22063115-22284321)x0,15q11.2q12(22288358-25678973)x3,22q11.21(17256415-17386984)x3
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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
|
|
Passage Frozen |
2 |
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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 |
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Cytogenetics |
Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (+)13q22>13qter |
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Chromosome 13: TRANSLOCATION Breakpoint 13q22 |
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Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment (+)15pter>15q14 |
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Chromosome 15: TRANSLOCATION Breakpoint 15q14 |
Remarks |
Bilateral colobomas irides; high, arched palate; dysplastic pinna; large capillary hemangioma of forehead; VSD; postaxial hexadactyly of hands; hydronephrosis; apnea |
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
Passage Frozen |
2 |
Split Ratio |
1:5 |
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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