Description:
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
Black/African American
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.31 |
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Well, but has 100% fetal hemoglobin; shows substantial deletion of delta and beta globin genes on both chromosomes 11; 46,XY; patient is doubly heterozygous for both forms of deletion type HPFH found in blacks (HPFH 1 and 2) |
| Tuan D, Feingold E, Newman M, Weissman SM, Forget BG, Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A80:6937-41 1983 |
| PubMed ID: 6196781 |
| |
| Fritsch EF, Lawn RM, Maniatis T, Characterisation of deletions which affect the expression of fetal globin genes in man. Nature279:598-603 1979 |
| PubMed ID: 450109 |
| |
| Kan YW, Holland JP, Dozy AM, Charache S, Kazazian HH, Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. Nature258:162-3 1975 |
| PubMed ID: 1186896 |
| Cumulative PDL at Freeze |
12.31 |
| Passage Frozen |
11 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
|
|