GM22101
Fibroblast from Skin, Arm
Description:
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
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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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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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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
5.61 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; dolicocephaly; malar hypoplasia; deviated nasal bridge; soft wrapped auricles; curved left ear canal; overbite; gingivitis; micrognathia; high palate; puffy thyroid; abnormal chest wall; pectus carinatum; decreased breathing sounds; abnormal bowel sounds; midsystolic click; soft skin; striae; upper thoracic scoliosis; hyperextension in shoulders, elbows, hips, and CMC joints; neck mobility limited in all directions; genu vara; arachnodactyly; Beighton score 4/9; visual floaters; bad headaches with spells for two weeks; hyperacues in both ears; reflux-related cough; hypermobile urethra; mild disc disease at T2; lumbar dural ectasia; mild disc protrusion with minimal left neural foraminal narrowing at L3-L4; mild disc disease with mild stenosis at C3-C7; negative for COL31A, TGFBR1 and TGFBR2 gene mutations; see GM22100 Lymphoid |
| Cumulative PDL at Freeze |
5.61 |
| Passage Frozen |
3 |
| 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 |
- |
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