GM16627
Fibroblast from Skin, Thorax
Description:
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
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Biopsy Source
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Thorax
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Thorax
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; deceased; thoracic wall biopsy taken at autopsy; at 19 weeks gestation amniocentesis showed an alpha-fetoprotein level of 411 ug/ul; 46,XX; no family knowledge of Mennonite or Finnish ancestry; severe nephrosis and discrete isthmic coarctation; increasing peak and mean Doppler gradients; high ventricular end-diastolic pressure; valvar pulmonary stenosis |
| Passage Frozen |
1 |
| Split Ratio |
1:8 |
| 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 |
- |
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