GM08015
LCL from B-Lymphocyte
Description:
SPHEROCYTOSIS, HEREDITARY; HS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
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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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LCL from B-Lymphocyte
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Family Member
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2
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,del(8)(pter>p21::p11.2> qter)[48]/46,XY[52]
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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 and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 8: DELETION Aneuploid Segment (-)8p21>8p11 |
| Remarks |
Clinically unaffected; 2 affected daughters; 46,XY/46,XY,del(8)(pter>p21:: p11.2>qter); 52% of cells are 46,XY |
| Chilcote RR, Le Beau MM, Dampier C, Pergament E, Verlinsky Y, Mohandas N, Frischer H, Rowley JD, Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood69:156-9 1987 |
| PubMed ID: 3790722 |
| dbSNP |
dbSNP ID: 21220 |
| Gene Ontology |
GO:0005198 structural molecule activity |
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GO:0005200 structural constituent of cytoskeleton |
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GO:0005515 protein binding |
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GO:0005856 cytoskeleton |
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GO:0005886 plasma membrane |
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GO:0006887 exocytosis |
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GO:0007010 cytoskeleton organization and biogenesis |
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GO:0007165 signal transduction |
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GO:0008093 cytoskeletal adaptor activity |
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GO:0015629 actin cytoskeleton |
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GO:0016323 basolateral plasma membrane |
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GO:0019899 enzyme binding |
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GO:0030507 spectrin binding |
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GO:0045199 maintenance of epithelial cell polarity |
| NCBI Gene |
Gene ID:286 |
| NCBI GTR |
182900 SPHEROCYTOSIS, TYPE 1; SPH1 |
| OMIM |
182900 SPHEROCYTOSIS, TYPE 1; SPH1 |
| Omim Description |
ANKYRIN 1, INCLUDED; ANK1, INCLUDED |
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ANKYRIN, ERYTHROCYTIC, INCLUDED |
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ANKYRIN-R, INCLUDED; ANK, INCLUDED |
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SPHEROCYTOSIS, HEREDITARY; HS |
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SPHEROCYTOSIS, SEVERE ATYPICAL, DUE TO SUSPECTED ANKYRIN DEFECTSPHEROCYTOSIS, TYPE II, INCLUDED; SPH2, INCLUDED |
| Split Ratio |
1:4 |
| 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 |
- |
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