Description:
HEMOCHROMATOSIS, NEONATAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
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Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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Race
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White
|
|
Ethnicity
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JEWISH
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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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|
| PDL at Freeze |
4.46 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| HLA TYPING |
HLA type determined for fibroblast culture is A24,Bw62/A30,B13 |
| |
| Remarks |
Aff bro expired at age 6 da; sm for gest age; microcephaly; expired at age 2 da with anuria & fulminant hepatic failure; sm bowel perf, peritonitis, hemorrhage of lungs, & sm discolored liver; heavy iron staining of hepatocytes & pancreas |
| Driscoll, Neonatal hemochromatosis: Evidence for autosomal recessive transmission. Am J Hum Genet43 Sup:A232 (1988): 1988 |
| PubMed ID: |
| Cumulative PDL at Freeze |
4.46 |
| Passage Frozen |
9 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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