Description:
HERMANSKY-PUDLAK SYNDROME 6; HPS6
HERMANSKY-PUDLAK SYNDROME GENE 6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| 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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Ethnicity
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FLEMISH
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
HPS6 |
| Chromosomal Location |
10q24.32 |
| Allelic Variant 1 |
; HERMANSKY-PUDLAK SYNDROME |
| Identified Mutation |
1714delCTGT |
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| Gene |
HPS6 |
| Chromosomal Location |
10q24.32 |
| Allelic Variant 2 |
; HERMANSKY-PUDLAK SYNDROME |
| Identified Mutation |
1714delCTGT |
| Remarks |
Flemish; clinically affected; type VI; albinism; severe visual handicap; bleeding tendency; frequent nosebleeds; subcutaneous hematomas; bleeding time: 6 minutes 30 seconds (mildly prolonged); visual acuity is 1/20 bilateral; younger brother is also affected; donor subject is homozygous for a frameshift deletion (1714delCTGT) of the HPS6 gene, which is the human homologue of mouse ruby-eye (ru) |
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