Description:
SPONASTRIME DYSPLASIA
|
Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Alternate IDs |
GM17005 [SPONASTRIME DYSPLASIA] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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|
Tissue Type
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Blood
|
|
Transformant
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Epstein-Barr Virus
|
|
Sample Source
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DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
GERMAN
|
|
Family Member
|
2
|
|
Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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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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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically unaffected; 2 affected children |
| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
| |
| Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R,
Chakravarti A, Patterns of single-nucleotide polymorphisms in candidate genes for
blood-pressure homeostasis. Nat Genet22(3):239-47 1999 |
| PubMed ID: 10391210 |
| |
| Lachman RS, Stoss H, Spranger J, Sponastrime dysplasia A radiologic-pathologic correlation Pediatric radiology19:417-24 1989 |
| PubMed ID: 2771481 |
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