Description:
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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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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|
Ethnicity
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ECUADORIAN
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Family Member
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1
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Relation to Proband
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proband
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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 |
Ecuadorian; frequent episodes of unexplained fever; self abusive behavior; self mutilation; abnormal histamine test; dry skin; develop delay; abnormal sural nerve biopsy; similarly affected brother; consang parents; see GM08382 Lymphoid |
| Scribanu, Atypical nerve histology in a case of familial dysautonomia type II. Pediatr Res12:536 (1978): 1978 |
| PubMed ID: |
| Passage Frozen |
3 |
| 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 |
- |
|