GM08382
LCL from B-Lymphocyte
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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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
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Transformant
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Epstein-Barr Virus
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR Analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.. |
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| Remarks |
Ecuadorian; frequent episodes of unexplained fever; self abusive behavior; self mutilation; abnorm histamine test; dry skin; develop delay; abnorm sural nerve bx; similarly affected brother; consang parents; see GM03904 Fibroblast |
| Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I, Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis [see comments] Nat Genet13:485-8 1996 |
| PubMed ID: 8696348 |
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| Scribanu, Atypical nerve histology in a case of familial dysautonomia type II. Pediatr Res12:536 (1978):485-8 1978 |
| PubMed ID: 8696348 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
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