GM19698
Fibroblast from Skin, Thigh
Description:
GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED)
EHLERS-DANLOS SYNDROME, TYPE III
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Biopsy Source
|
Thigh
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Thigh
|
|
Race
|
White
|
|
Ethnicity
|
SCOTTISH/IRISH/ENGLISH
|
|
Family Member
|
5
|
|
Relation to Proband
|
son
|
|
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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Not clinically affected with GSD IX; symptoms of EDS hypermobility type include: joint soreness in shoulder and neck off and on, knee with pain off and on; diagnosis of EDS has not been made clinically; mother (GM19647) is clinically affected with EDS hypermobility type; clinically unaffected father is GM19688; 3 clinically affected brothers with GSD IX including GM19693 and GM19695 |
| dbSNP |
dbSNP ID: 20175 |
| Gene Ontology |
GO:0004689 phosphorylase kinase activity |
|
GO:0005516 calmodulin binding |
|
GO:0005964 phosphorylase kinase complex |
|
GO:0005975 carbohydrate metabolism |
|
GO:0005977 glycogen metabolism |
|
GO:0006091 energy pathways |
|
GO:0006464 protein modification |
| NCBI Gene |
Gene ID:5256 |
| NCBI GTR |
130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE; EDSHMB |
|
306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 |
| OMIM |
130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE; EDSHMB |
|
306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 |
| Omim Description |
GLYCOGEN STORAGE DISEASE IX, INCLUDED |
| |
GLYCOGEN STORAGE DISEASE VIII |
| |
GLYCOGENOSIS VIIIA |
| |
HEPATIC PHOSPHORYLASE KINASE DEFICIENCY; PHK |
| |
LIVER GLYCOGENOSIS, X-LINKED, TYPE I |
| |
LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED; XLG2, INCLUDED |
| |
PHKA, INCLUDED |
| |
PHOSPHORYLASE KINASE DEFICIENCY OF LIVER; PYK; PYKL |
| |
X-LINKED LIVER GLYCOGENOSIS; XLGPHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT, INCLUDED; PHKA2, INCLUDED |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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 |
- |
|
|