Description:
PORPHYRIA, ACUTE INTERMITTENT
HYDROXYMETHYLBILANE SYNTHASE; HMBS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| hydroxymethylbilane synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.61 |
| |
| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
R195C; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
ARG195CYS |
| Remarks |
See GM02135 Lymphoid; active AIP; deficient URO synthetase; positive family history; donor subject is heterozygous for a C>T transition at nucleotide 583 in exon 10 of the HMBS gene (583C>T) resulting in the substitution of cysteine for arginine at codon 195 [Arg195Cys (R195C)] |
| Sassa S, Granick S, Bickers DR, Bradlow HL, Kappas A, A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease. Proc Natl Acad Sci U S A71:732-6 1974 |
| PubMed ID: 4522787 |
| Passage Frozen |
3 |
| 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 |
- |
|
|