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NA12928 DNA from LCL

Description:

HERMANSKY-PUDLAK SYNDROME; HPS
HPS1 GENE; HPS1

Affected:

Yes

Sex:

Female

Age:

35 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Alternate IDs GM17079 [HERMANSKY-PUDLAK SYNDROME; HPS]
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity PUERTO RICAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Puerto Rican; oculocutaneous albinism; pulmonary fibrosis; prolonged bleeding time; easy bruisability; multiple lentigines; pale yellow hair; defective platelet aggregation; 2 affected sibs and a paternal uncle who was an albino; homozygous 16 bp duplication within exon 15 of the HPS gene (codons 491_496)

Characterizations

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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
 
Gene HPS1
Chromosomal Location 10q23.1
Allelic Variant 1 604982.0001; HERMANSKY-PUDLAK SYNDROME
Identified Mutation 16-BP DUP; By SSCP/heteroduplex analysis and DNA sequencing, Oh et al. [Nature Genet. 14: 300 (1996)] identified a 16-bp duplication within exon 15 of the HPS gene, resulting in a frameshift distal to codon pro496, with termination of the nonsense polypeptide at codon 586.
 
Gene HPS1
Chromosomal Location 10q23.1
Allelic Variant 2 604982.0001; HERMANSKY-PUDLAK SYNDROME
Identified Mutation 16-BP DUP; By SSCP/heteroduplex analysis and DNA sequencing, Oh et al. [Nature Genet. 14: 300 (1996)] identified a 16-bp duplication within exon 15 of the HPS gene, resulting in a frameshift distal to codon pro496, with termination of the nonsense polypeptide at codon 586.

Phenotypic Data

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Remarks Puerto Rican; oculocutaneous albinism; pulmonary fibrosis; prolonged bleeding time; easy bruisability; multiple lentigines; pale yellow hair; defective platelet aggregation; 2 affected sibs and a paternal uncle who was an albino; homozygous 16 bp duplication within exon 15 of the HPS gene (codons 491_496)

External Links

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dbSNP dbSNP ID: 11709
Gene Cards HPS
HPS1
NCBI Gene Gene ID:3257
NCBI GTR 203300 HERMANSKY-PUDLAK SYNDROME 1; HPS1
604982 HPS1 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 1; HPS1
OMIM 203300 HERMANSKY-PUDLAK SYNDROME 1; HPS1
604982 HPS1 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 1; HPS1
Omim Description ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIALCELLS
  DELTA-STORAGE POOL DISEASE
  HERMANSKY-PUDLAK SYNDROME; HPS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM12928 - B-Lymphocyte
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