GM14606
LCL from B-Lymphocyte
Description:
HERMANSKY-PUDLAK SYNDROME; HPS
HPS1 GENE; HPS1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
PUERTO RICAN
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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. |
| Remarks |
Puerto Rican; oculocutaneous albinism; possible early pulmonary fibrosis; hemorrhagic diathesis; homozygous 16 bp duplication (codons 491_496); see GM14609 Fibroblast |
| Iyer S, Suresh S, Guo D, Daman K, Chen JCJ, Liu P, Zieger M, Luk K, Roscoe BP, Mueller C, King OD, Emerson CP, Wolfe SA, Precise therapeutic gene correction by a simple nuclease-induced double-stranded break Nature568:561-565 2018 |
| PubMed ID: 30944467 |
| |
| 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|