Description:
PORPHYRIA, ACUTE INTERMITTENT
HYDROXYMETHYLBILANE SYNTHASE; HMBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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Family Member
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3
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Relation to Proband
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mother
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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 |
2 |
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| hydroxymethylbilane synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.61 |
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| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
T35M; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
THR35MET |
| Remarks |
Deficient uroporphyrinogen-I synthetase; 2 affected children; donor subject is heterozygous for a C>T transition at nucleotide 104 in exon 4 of the HMBS gene (104C>T) resulting in the substitution of methionine for threonine at codon 35 [Thr35Met (T35M)] |
| Sassa S, Solish G, Levere RD, Kappas A, Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait. J Exp Med142:722-31 1975 |
| PubMed ID: 1165472 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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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