GM22103
Fibroblast from Skin, Arm
Description:
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
COLLAGEN, TYPE III, ALPHA-1; COL3A1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Arm
|
|
Family Member
|
4
|
|
Relation to Proband
|
sister
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
3.18 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
COL3A1 |
| Chromosomal Location |
2q31 |
| Allelic Variant 1 |
R1024X; EHLERS-DANLOS SYNDROME, TYPE IV |
| Identified Mutation |
ARG1024TER |
| Remarks |
Clinically affected; soft auricles; blue sclerae; downsloping ribs; pectus carinatum; grade 2/6 systolic murmur; thin soft skin with visible veins; upper thoracic scoliosis; hyperextensibility and bony enlargements in MCP, PIP and DIP joints; pes planus; Beighton score 0/9; has had two heart attacks; has trouble getting back to sleep after waking; stress induced incontinence; disc disease at C4-C7 with mild to moderate stenosis; type 1 endplate changes at C5-C6; disc osteophyte mainly at C5-C7 causing lateral recess narrowing; mild cord compression noted at level C5-C6; mild lumbar dural ectasia; central disc extrusion causing mild to moderate spinal canal stenosis; affected son is GM22102; donor subject is heterozygous for a C>T transition at nucleotide 3070 in exon 43 of the COL3A1 gene (c.3070C>T) resulting in the substitution of a stop codon for an arginine at codon 1024 [Arg1024Ter (R1024X)] |
| Gene Cards |
COL3A1 |
| Gene Ontology |
GO:0005201 extracellular matrix structural constituent |
|
GO:0005581 collagen |
|
GO:0005586 collagen type III |
|
GO:0005737 cytoplasm |
|
GO:0006817 phosphate transport |
|
GO:0008015 circulation |
|
GO:0009887 organogenesis |
| NCBI Gene |
Gene ID:1281 |
| NCBI GTR |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
|
130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
| OMIM |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
|
130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
| Omim Description |
EDS IV |
| |
EDS4 |
| |
EHLERS-DANLOS SYNDROME, ARTERIAL TYPE |
| |
EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE |
| |
EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE |
| |
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT |
| Cumulative PDL at Freeze |
3.18 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
|