Description:
TURNER SYNDROME
ISO X 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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46,X,i(X)(qter>q10::q10>qter)
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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 |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome X: ISOCHROMOSOME Aneuploid Segment (+)Xq10>Xqter |
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Chromosome X: ISOCHROMOSOME Aneuploid Segment (-)Xpter>Xp10 |
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Chromosome X: ISOCHROMOSOME Trisomic Segment Xcen>Xqter |
| 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 |
| |
| Just W, Geerkens C, Held KR, Vogel W, Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum Genet89:240-2 1992 |
| PubMed ID: 1587534 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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