NA00257
DNA from Fibroblast
Description:
TRANSLOCATED 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
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,t(1;2)(1pter>1q32::2p23>2pter; 2qter>2p23::1q32>1qter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1q32 t(1;2)1q32 |
|
Chromosome 2: TRANSLOCATION Breakpoint 2p23 t(1;2)2p23 |
| Remarks |
Phenotypically normal |
| Vailly J, Szepetowski P, Mattei MG, Pedeutour F, Burgeson R, Ortonne JP, Meneguzzi G, The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31. Genomics21:286-8 1994 |
| PubMed ID: 8088808 |
| |
| Alfi OS, Miller RC, Greene AE, Coriell LL, A (1;2) translocation, balanced, 46 chromosomes. Repository identification No. GM-257. Cytogenet Cell Genet14:154-4 1975 |
| PubMed ID: 1149497 |
|
|