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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
COL3A1 |
| Chromosomal Location |
2q31 |
| Allelic Variant 1 |
G708D; EHLERS-DANLOS SYNDROME, TYPE IV |
| Identified Mutation |
GLY708ASP |
| Remarks |
Clinically affected; big eyes; soft auricles; had palate expanded; micrognathia; high palate; blue sclerae; downsloping ribs; grade 3/6 murmur in USB; cyanosis; left foot is colder than right; soft skin; cigarette paper scars; easy bruising; discolored scars on legs; upper thoracic scoliosis; kyphosis; hyperextensibility in shoulders, elbows, knees, and CMC, MCP, PIP and DIP joints; pes planus; genu valga; migraines; chest pain is movement related; occasional abdominal pain and bloating; in the right M2 segment of middle cerebral artery there is a slight bulbous appearance of proximal branch; minimal disc disease from C3-7, dural ectasia in lower thoracic spine and lumbar with eccentric nucleus pulposus; disc desiccation at L4-S1; small hemangioma in S2 vertebral body; diffuse disc buldge at L4-5; donor subject has a G>A transition at nucleotide 2123 in exon 32 of the COL3A1 gene (c.2123G>A) resulting in the substitution of aspartic acid for glycine at codon 708 [Gly708Asp (G708D)] |
| Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020 |
| PubMed ID: 32706999 |
| 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 |
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