Description:
TURNER SYNDROME
ISODICENTRIC CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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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]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (+)Xp11>Xqter |
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Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (-)Xpter>Xp11 |
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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 |
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| 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 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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