Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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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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47,XX,+der(21)t(3;21)(p24.2;q21)mat.arr 3p26.3p26.2(35332-4064312)x3,3p26.2(4067921-4227267)x1,3p26.2p24.1(4228020-30708056)x3,7q35(145830921-146055814)x1,21q11.2q21.1(13492142-20529414)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
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| 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 21: DERIVATIVE CHROMOSOME Aneuploid Segment (+)21pter>21q21 |
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Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (+)21pter->21q21 |
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Chromosome 21: DERIVATIVE CHROMOSOME Trisomic Segment 21pter>21q21 |
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Chromosome 21: TRANSLOCATION Aneuploid Segment (+)21pter->21q21 |
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Chromosome 3: DERIVATIVE CHROMOSOME Aneuploid Segment (+)3pter>3p24 |
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Chromosome 3: DERIVATIVE CHROMOSOME Trisomic Segment 3pter>3p24 |
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Chromosome 3: TRANSLOCATION Aneuploid Segment (+)3pter->3p24 |
| Remarks |
Minor congenital anomalies; absence of isthmus of the thyroid; "free-floating" cecum, appendix, & ascending colon; flexion contracture, left index finger; focal adrenal cytomegaly; shortened tail of pancreas; accessory lobe of liver |
| 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 |
1:3 |
| 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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