GM21604
Fibroblast from Skin, Unspecified
Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Remarks |
Clinically affected; muscle pain in chest; soft auricles; dental crowding; micrognathia; high palate; blue sclerae; pectus carinatum; tender in lower left quadrant of abdomen; midsystolic click; cyanosis; soft hyperextensible skin; striae; degree R scoliosis in lumbar spine; hyperextension in shoulders, elbows, hips and CMC, MCP, PIP and DIP joints; genu valga; arachnodactyly; poor sleep; visual floaters and lazy eye; food intolerence; heavy and painful menses; disc buldges at C4-C6 spine; dural ectasia at L4-L5; disc buldge and facet arthrosis at L4-S1; affected son is GM21605 Lymphoid; see GM21603 Lymphoid |
Passage Frozen |
2 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
10% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
|
|