NA00972
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
DGAP
dbGaP |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
Black/African American
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
arr(1-22,X)x2
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13q14 t(4;13)13q14 |
|
Chromosome 4: TRANSLOCATION Breakpoint 4q31 t(4;13)4q31 |
| Remarks |
See GM01063B Lymphoid; mental retardation; height, weight, and head circumference below the 3rd %ile; grade II-IV systolic murmur; abnormal facies; finger and toe abnormalities |
| 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 |
| |
| Jenkins EC, Curcuru-Giordano FM, Krishna SG, Cantarella J, De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl. Ann Genet18:117-20 1975 |
| PubMed ID: 1081364 |
|
|