NA01429
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
|
|
Race
|
Black/African American
|
|
Family Member
|
2
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Mosaic; 16% of fibroblasts do not have additional 10; in blood leukocytes normal X was late replicating; normal phenotype; fibroblasts have 164% of normal HK1 activity and 122% of normal GOT1 activity |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
| |
| Kuerbitz SJ, Malandro J, Compitello N, Baylin SB, Graff JR, Deletion of p16INK4A/CDKN2 and p15INK4B in human somatic cell hybrids and
hybrid-derived tumors. Cell Growth Differ10(1):27-33 1999 |
| PubMed ID: 9950215 |
| |
| Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, et al, Deficient expression of a B cell cytoplasmic tyrosine kinase in human X- linked agammaglobulinemia. Cell72:279-90 1993 |
| PubMed ID: 8425221 |
| |
| Gitelman, Regional mapping of the loci for hexokinase-1(HK1) and glutamic oxaloacetic transaminase-1(GOT1) on chromosome 10 by gene dosage studies. Cytogenet Cell Genet32:281 (1982):279-90 1982 |
| PubMed ID: 8425221 |
| |
| Carritt B, Povey S, Regional asssignments of the loci AK3, ACONS, and ASS on human chromosome 9. Cytogenet Cell Genet23:171-81 1979 |
| PubMed ID: 219990 |
|
|