GM22607
Fibroblast from Skin, Arm
Description:
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
COLLAGEN, TYPE III, ALPHA-1; COL3A1
NEUROFIBROMATOSIS, TYPE I; NF1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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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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sister
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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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| PDL at Freeze |
7.39 |
| Passage Frozen |
2 |
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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 |
; EHLERS-DANLOS SYNDROME, TYPE IV |
| Identified Mutation |
766delA |
| Remarks |
Clinically affected; also has neurofibromatosis type I; see GM22606 Lymphoid; reduced amount of procollagen III secreted by fibroblasts; midface hypoplasia; scarred TM right; dental crowding; micrognathia; small eyes; edema; soft skin; multiple neurofibromas; cigarette paper scarring; cafe-au-lait spots; scoliosis; kyphosis; hyperextension in shoulders, elbows, knees, and mildly in CMC joints and thumbs; pes planus; Beighton score 4/9; 3 to 5 tension migraines per week; problems hearing with background noise; pain in eyes; problems walking; constipation; slight narrowing in the supraclinoid cavernous portion of the right ICA; mild disc disease at C6-C7, posterior fossa arachnoid cyst inferiorly in C-spine; slight deformity in L1 vertebral body possibly due to previous trauma; mild disc buldge at L5-S1 with central annular tear; mild disc desiccation at L4-L5; minimal facet arthrosis at L4-S1; affected sister is GM22609; donor subject has a 1 bp deletion at nucleotide 766 of the COL3A1 gene [c.766delA] |
| Gene Cards |
COL3A1 |
| Gene Ontology |
GO:0004857 enzyme inhibitor activity |
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GO:0005099 Ras GTPase activator activity |
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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:0007265 Ras protein signal transduction |
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GO:0008015 circulation |
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GO:0008151 cell growth and/or maintenance |
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GO:0008285 negative regulation of cell proliferation |
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GO:0009887 organogenesis |
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GO:0045786 negative regulation of cell cycle |
| NCBI Gene |
Gene ID:1281 |
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Gene ID:4763 |
| NCBI GTR |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
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130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
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162200 NEUROFIBROMATOSIS, TYPE I; NF1 |
| OMIM |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
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130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
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162200 NEUROFIBROMATOSIS, TYPE I; NF1 |
| 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 |
| Cumulative PDL at Freeze |
7.4 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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 |
- |
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