NA00339
DNA from Fibroblast
Description:
TURNER SYNDROME
ISODICENTRIC 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
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
45,X,t(2;4)(2qter>2p13::4q31>4qter;4pter>4q31::2p13>2pter)[28]/46,X,idic(X)(qter>p11::p11>qter)[15]/45,X[5}/47,X,idic(X)(p11),+idic(X)(p11)[2]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (+)Xp11>Xqter |
|
Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (-)Xpter>Xp11 |
|
Chromosome X: DICENTRIC CHROMOSOME Trisomic Segment (+)Xp11>Xqter |
| Remarks |
60%/40% mosaic; 83% of XO cells have additional t(2;4); a subline with two dic(X) is present in 4% of cells; Turner syndrome |
| 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 |
| |
| Wolff DJ, Miller AP, Van Dyke DL, Schwartz S, Willard HF, Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet58(1):154-60 1996 |
| PubMed ID: 8554051 |
|
|