Description:
FABRY DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
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
|
6
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Relation to Proband
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maternal cousin
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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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|
| Remarks |
Normal levels of alpha-gal A and B; Xg(a) antigen negative; son of GM02771 |
| Ropers HH, Wienker TF, Grimm T, Schroetter K, Bender K, Evidence for preferential X-chromosome inactivation in a family with Fabry disease. Am J Hum Genet29:361-70 1977 |
| PubMed ID: 406783 |
| Passage Frozen |
7 |
| 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 |
| Supplement |
- |
|