GM10462
Fibroblast from Umbilical Cord, Umbilical cord
Description:
GIANT PLATELET SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
|
Biopsy Source
|
Umbilical cord
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Umbilical Cord
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Umbilical Cord, Umbilical cord
|
|
Race
|
Black/African American
|
|
Family Member
|
1
|
|
Relation to Proband
|
daughter
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Umbilical cord biopsy |
| dbSNP |
dbSNP ID: 15603 |
| NCBI GTR |
231200 BERNARD-SOULIER SYNDROME; BSS |
| OMIM |
231200 BERNARD-SOULIER SYNDROME; BSS |
| Omim Description |
BERNARD-SOULIER SYNDROME, AUTOSOMAL DOMINANT, INCLUDED |
| |
BERNARD-SOULIER SYNDROME, TYPE A, INCLUDED |
| |
BERNARD-SOULIER SYNDROME; BSS |
| |
GIANT PLATELET SYNDROME |
| |
GLYCOCALICIN, INCLUDED |
| |
GP Ib, ALPHA SUBUNIT, INCLUDED |
| |
MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE, INCLUDED |
| |
PLATELET GLYCOPROTEIN Ib, DEFICIENCY OFGLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE, INCLUDED; GP1BA, INCLUDED |
| |
PLATELET GLYCOPROTEIN Ib, POLYMORPHISM OF, INCLUDED |
| |
VON WILLEBRAND DISEASE, PLATELET TYPE, INCLUDED |
| |
VON WILLEBRAND FACTOR RECEPTOR, DEFICIENCY OF, INCLUDED |
| Passage Frozen |
4 |
| Split Ratio |
1:2 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|