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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Family Member
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1
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Family History
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N
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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 |
skipping of exon 8; EHLERS-DANLOS SYNDROME, TYPE IV |
| Identified Mutation |
IVS8+5G>A |
| Remarks |
Clinically affected; abnormal procollagen III by electrophoresis analysis; affected brother is GM22750; see GM22753 Fibroblast; donor subject has a G>A change in intron 8 of the COL3A1 gene [IVS8+5G>A] resulting in the skipping of exon 8 |
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
| 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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