NA09285
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
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
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| 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 (+)21pter>21q21 |
|
Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (+)21pter->21q21 |
|
Chromosome 21: DERIVATIVE CHROMOSOME Trisomic Segment 21pter>21q21 |
|
Chromosome 21: TRANSLOCATION Aneuploid Segment (+)21pter->21q21 |
|
Chromosome 3: DERIVATIVE CHROMOSOME Aneuploid Segment (+)3pter>3p24 |
|
Chromosome 3: DERIVATIVE CHROMOSOME Trisomic Segment 3pter>3p24 |
|
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 |
|
|