NA12019
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
DERIVATIVE CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Quantity |
50 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
|
Fibroblast
|
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(21)t(3;21)(21pter>21q22.3:: 3p21.3>3pter). ish der(21)(AML1+)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
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 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21q22.3>21qter |
|
Chromosome 3: DERIVATIVE CHROMOSOME Aneuploid Segment (+)3pter>3p21.3 |
Remarks |
Diaphragm fibroblast culture; anencephaly; fetal demise |
|