GM17507
Fibroblast from Skin, Arm
Description:
OSTEOGENESIS IMPERFECTA, TYPE IV; OI4
APPARENTLY HEALTHY INDIVIDUAL
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
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Sample Source
|
Fibroblast from Skin, Arm
|
|
Race
|
White
|
|
Ethnicity
|
AMISH
|
|
Family Member
|
5
|
|
Relation to Proband
|
cousin
|
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Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
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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 |
Clinically normal; white sclerae; good dentition; bone density score is normal; skin biopsy taken from the arm; see GM17508 Lymphoid |
| Sprecher U, Dsouza J, Marisat M, Barasch D, Mishra K, Kakhlon O, Manor J, Anikster Y, Weil M, In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction Molecular genetics and metabolism reports42:101172 2025 |
| PubMed ID: 39802097 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|