NA00098
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
10 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,XY,der(21)(21qter> 21p12::4p11>4pter)mat
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21pter>21p12 |
|
Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (+)4pter>4p11 |
|
Chromosome 4: DERIVATIVE CHROMOSOME Trisomic Segment 4pter>4p11 |
| Remarks |
Multiple congenital anomalies |
| Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983 |
| PubMed ID: 6350155 |
| |
| Schmutz, Suggested assignment of peptidase S(PEPS ) to 4p12>q12 by exclusion using gene dosage. Cytogenet Cell Genet32:315 (1982):134-8 1982 |
| PubMed ID: 6350155 |
| |
| Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976 |
| PubMed ID: 182912 |
| |
| Seabright M, Miller RC, Greene AE, Coriell LL, A (4;21) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-98. Cytogenet Cell Genet14:152-3 1975 |
| PubMed ID: 1149496 |
|
|