Description:
TETRALOGY OF FALLOT
MARKER CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
|
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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|
Family Member
|
1
|
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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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|
ISCN
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46,XY,add(1)(?ps::p36.31>qter) 1ps is NOR positive
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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 |
2 |
| |
| 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 |
| |
| Remarks |
See GM09499 Lymphoid; several dysmorphic features including congen heart disease; ECHO is compat with Tetralogy of Fallot; oxycephalic & brachycephalic head shape; lrg, flat anterior fontanel; prom forehead; rocker bottom feet; 46,XY,1ps,NOR+ |
| Passage Frozen |
2 |
| 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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