NA08135
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Quantity |
50 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
|
White
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Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
|
46,X,t(X;21)(Xpter>Xq22.3::21q11> 21qter;21pter>21q11::Xq22.3>Xqter)
|
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 |
7 |
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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 21: TRANSLOCATION Breakpoint 21q11 t(X;21)21q11 |
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Chromosome X: TRANSLOCATION Breakpoint Xq22 t(X;21)Xq22 |
Remarks |
Clinically normal; two similarly affected children with unbalanced translocation; normal RBC SOD1; normal WBC G6PD, CPK, & A-galactosidase |
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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