Description:
TURNER SYNDROME
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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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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Black/African American
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Family Member
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1
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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,+der(9)(9pter>9q34::Xq13> Xqter)mat
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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 |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9q34 |
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Chromosome 9: DERIVATIVE CHROMOSOME Trisomic Segment 9pter>9q34 |
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Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (-)Xpter>Xq13 |
| Remarks |
Turner syndrome; in blood leukocytes and fibroblasts abnormal X is late replicating |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Hall LL, Clemson CM, Byron M, Wydner K, Lawrence JB, Unbalanced X;autosome translocations provide evidence for sequence specificity
in the association of XIST RNA with chromatin. Hum Mol Genet11(25):3157-65 2002 |
| PubMed ID: 12444100 |
| |
| 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 |
| |
| Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
| PubMed ID: 6093508 |
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| Leisti JT, Kaback MM, Rimoin DL, Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J Hum Genet27:441-53 1975 |
| PubMed ID: 1155455 |
| Passage Frozen |
8 |
| Split Ratio |
1:5 |
| 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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