GM26643
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE I; EDS1
COLLAGEN, TYPE V, ALPHA-1; COL5A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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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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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Cherokee 1/16th
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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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 LINE assay |
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| Remarks |
Patient believes she may be affected but has not had any EDS genetic test; has experienced joint issues, depression, and very poor eyesight throughout entire life; grandmother and great-grandmother of proband had joint issues; surgeries: elbow and knee scopes; treatment: physical therapy; mother and grandmother died of aneurysms; affected child (GM26642). |
| Gene Cards |
COL5A1 |
| Gene Ontology |
GO:0005201 extracellular matrix structural constituent |
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GO:0005581 collagen |
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GO:0005588 collagen type V |
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GO:0005737 cytoplasm |
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GO:0006817 phosphate transport |
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GO:0007155 cell adhesion |
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GO:0008201 heparin binding |
| NCBI Gene |
Gene ID:1289 |
| NCBI GTR |
120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1 |
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130000 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 |
| OMIM |
120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1 |
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130000 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 |
| Omim Description |
EDS I |
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EHLERS-DANLOS SYNDROME, CLASSIC SEVERE FORM |
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EHLERS-DANLOS SYNDROME, GRAVIS TYPE |
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EHLERS-DANLOS SYNDROME, TYPE I; EDS1 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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