GM08384
LCL from B-Lymphocyte
Description:
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of the Nervous System |
Alternate IDs |
GM17302 [NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS] |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Race
|
White
|
Ethnicity
|
ECUADORIAN
|
Family Member
|
3
|
Relation to Proband
|
father
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 sons with congenital sensory neuropathy with anhidrosis |
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 |
Split Ratio |
1:3 |
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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