Description:
CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED
LYSOSOMAL TRAFFICKING REGULATOR; LYST
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| 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 Isoenzyme Electrophoresis |
| |
| Gene |
LYST |
| Chromosomal Location |
1q42.3 |
| Allelic Variant 1 |
606897.0002; CHEDIAK-HIGASHI SYNDROME; CHS |
| Identified Mutation |
Arg1103Ter |
| |
| Gene |
LYST |
| Chromosomal Location |
1q42.3 |
| Allelic Variant 2 |
606897.0002; CHEDIAK-HIGASHI SYNDROME; CHS |
| Identified Mutation |
Arg1103Ter |
| Remarks |
Albinism; recurrent skin infections; neuropathy; mild mental retardation |
| Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ, Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome Nature genetics14:307-11 1996 |
| PubMed ID: 8896560 |
| |
| Blume RS, Wolff SM, The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore)51:247-80 1972 |
| PubMed ID: 5064229 |
| |
| Wolff SM, The Chediak-Higashi syndrome: studies of host defenses. Ann Intern Med76:293-306 1972 |
| PubMed ID: 4550589 |
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