GM14088
Fibroblast from Lung, Lung
Description:
THANATOPHORIC DYSPLASIA; UNKNOWN TYPE
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Connective Tissue, Muscle, and Bone |
Biopsy Source
|
Lung
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Lung
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Lung, Lung
|
Race
|
White
|
Ethnicity
|
RUSSIAN
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
1 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Lung biopsy fibroblast culture; dwarf; x-rays suggestive of thanatophoric with straight femurs; 46,XX in amniocytes; a muscle biopsy fibroblast culture is GM14089 |
Passage Frozen |
1 |
Split Ratio |
1:5 |
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 |
- |
|
|