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
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Ethnicity
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PORTUGUESE
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Family Member
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2
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Relation to Proband
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brother
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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 |
4 |
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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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| HLA TYPING |
HLA type determined for fibroblast culture is A1,B27/A1,B35 |
| |
| Remarks |
Hispanic; expired at age 6 wks; hepatic failure; hypoammonemic encephalopathy & direct hyperbilirubinemia; seizure disorder; chronic thrombocytopenia; gastroesophageal reflux with patulous esophagus; HLA type: A1,B27/A1,B35 |
| Knisely AS, Harford JB, Klausner RD, Taylor SR, Neonatal hemochromatosis. The regulation of transferrin-receptor and ferritin synthesis by iron in cultured fibroblastic-line cells. Am J Pathol134:439-45 1989 |
| PubMed ID: 2916654 |
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| Driscoll, Neonatal hemochromatosis: Evidence for autosomal recessive transmission. Am J Hum Genet43 Sup:A232 (1988):439-45 1988 |
| PubMed ID: 2916654 |
| Passage Frozen |
4 |
| 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 |
- |
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