Description:
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3
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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 the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from LCL
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Race
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White
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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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| Remarks |
Visual difficulties since age 5; retinal pigmentary changes at age 7; regression in cognitive functioning and difficulties with speech and coordination since age 10; 1st generalized seizure at age 12; perceptual motor difficulties; normal urinary dolichol |
| Kim H, Kim SJ, Upregulation of peroxisome proliferator-activated receptor ? with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic lysosomal storage diseases The international journal of biochemistry & cell biology174:106631 2024 |
| PubMed ID: 39038642 |
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| Kang S, Kim JB, Heo TH, Kim SJ, Cell cycle arrest in Batten disease lymphoblast cells Gene174:106631 2013 |
| PubMed ID: 23458879 |
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