Description:
HERMANSKY-PUDLAK SYNDROME; HPS
HPS1 GENE; HPS1
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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 |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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PUERTO RICAN
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Family Member
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1
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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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| Passage Frozen |
2 |
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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 |
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. |
| Remarks |
Puerto Rican; oculocutaneous albinism; possible early pulmonary fibrosis; hemorrhagic diathesis; homozygous 16 bp duplication within exon 15 of the HPS gene (codons 491_496); see GM14606 Lymph |
| Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K, Hagiwara M, Gotoh S, Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs Respiratory research22:284 2021 |
| PubMed ID: 34736469 |
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| Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI, Predictable and precise template-free CRISPR editing of pathogenic variants Nature563:646-651 2018 |
| PubMed ID: 30405244 |
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| Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL, A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3) Biochimica et biophysica acta1833:468-78 2012 |
| PubMed ID: 23103514 |
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| Nazarian R, Falcon-Perez JM, Dell'Angelica EC, Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A100(15):8770-5 2003 |
| PubMed ID: 12847290 |
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| Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS, Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. J Biol Chem275:1300-6 2000 |
| PubMed ID: 10625677 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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