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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3
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Relation to Proband
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maternal third cousin
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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(12)t(11;12)(q13;p13),der(17)t(10;17)(q24;p13)mat[16]/46,XY,der(17)t(10;17)(q24;p13)mat[8]/47,XY,+7,der(17)t(10;17)(q24;p13)mat[1].arr 10q24.2q26.3(100429248-135356682)x3,11q13.3q25(69301994-131112561)x2~3,12p13.1(31468-1154130)x1~2,17p13.3(513-1869520)x1
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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 |
9 |
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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 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10q24>10qter |
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Chromosome 10: DERIVATIVE CHROMOSOME Trisomic Segment 10q24>10qter |
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Chromosome 12: DERIVATIVE CHROMOSOME Aneuploid Segment (-)12pter>12p13 |
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Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (-)17pter>17p13 |
| Remarks |
Multiple congenital anomalies; growth and mental retardation; increased soluble glutamic oxaloacetic transaminase activity |
| 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 |
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| Gitelman, Regional mapping of the loci for hexokinase-1(HK1) and glutamic oxaloacetic transaminase-1(GOT1) on chromosome 10 by gene dosage studies. Cytogenet Cell Genet32:281 (1982):1143-9 1982 |
| PubMed ID: 23665875 |
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| Spritz RA, Emanuel BS, Chern CJ, Mellman WJ, Gene dosage effect: intraband mapping of human soluble glutamic oxaloacetic transaminase. Cytogenet Cell Genet23:149-56 1979 |
| PubMed ID: 436447 |
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| Zackai EH, Moreno-Fuenmayer H, Mellman WJ, Aronson MM, Greene AE, Coriell LL, A (10;17) translocation, 46 chromosomes. Repository identification No. GM-959. Cytogenet Cell Genet17:302-3 1976 |
| PubMed ID: 1017324 |
| Passage Frozen |
9 |
| 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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