GM22562
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
COLLAGEN, TYPE III, ALPHA-1; COL3A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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Family History
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N
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Relation to Proband
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cousin
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
COL3A1 |
| Chromosomal Location |
2q31 |
| Allelic Variant 1 |
G334R; EHLERS-DANLOS SYNDROME, TYPE IV |
| Identified Mutation |
GLY334ARG |
| Remarks |
Clinically affected; abnormal procollagen III motility by protein electrophoresis; darkening on cheeks; dysplastic auricles; gingivitis; mild micrognathia; mildly high palate; tinged blue sclerae; soft skin; abnormal scarring on lip; piezogenic papules; S-shaped scoliosis; limitation in both shoulders; hyperextension in hips and left knee; pes planus; Beighton score 1/9; chest discomfort for last 5 years; heartburn; slightly tortuous splenic artery; stenosis at origin of celiac artery; mild disc desiccation at L5-S1; moderate stenosis in right common carotid just before entering the petrou portion; minimal disc disease at C3-C4; small multi-level Schmorl's node in mid and lower thoracic; see GM22563 Fibroblast; donor subject is heterozygous for a missense mutation in exon 22 of the COL3A1 gene resulting in the substitution of arginine for glycine at codon 334 [Gly334Arg (G334R)] |
| Gene Cards |
COL3A1 |
| Gene Ontology |
GO:0005201 extracellular matrix structural constituent |
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GO:0005581 collagen |
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GO:0005586 collagen type III |
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GO:0005737 cytoplasm |
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GO:0006817 phosphate transport |
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GO:0008015 circulation |
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GO:0009887 organogenesis |
| NCBI Gene |
Gene ID:1281 |
| NCBI GTR |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
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130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
| OMIM |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
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130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
| Omim Description |
EDS IV |
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EDS4 |
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EHLERS-DANLOS SYNDROME, ARTERIAL TYPE |
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EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE |
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EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE |
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EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT |
| Split Ratio |
1:2 |
| 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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