Description:
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
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ECUADORIAN
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
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 |
Ecuadorian; frequent episodes of unexplained fever; self abusive behavior; dry skin; abnormal histamine test; developmental delay; self mutilation; similarly affected brother; consanguineous parents; see GM08383 Lymphoid |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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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