NA09679
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Fetal
|
Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,der(9)t(5;9)(p13;p24)mat.arr 5p15.33p13.3(68519-33016847)x3,9p24.3p24.2(36586-3520930)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
3 |
|
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 |
|
Cytogenetics |
Chromosome 5: DERIVATIVE CHROMOSOME Aneuploid Segment (+)5pter>5p13 |
|
Chromosome 5: DERIVATIVE CHROMOSOME Trisomic Segment 5pter>5p13 |
|
Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (-)9pter>9p24 |
Remarks |
Abortus fibroblast culture; an aunt with a similar 9p+ unbalanced translocation has severe mental retardation |
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 |
|
|