Description:
ALPHA-THALASSEMIA
HEMOGLOBIN--ALPHA LOCUS 2; HBA2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Alternate IDs |
GM17012 [ALPHA-THALASSEMIA] |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
Asian
|
|
Ethnicity
|
CHINESE
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.32 |
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Chinese; Canadian Repository #646; electrophoresis confirmed Barts Hb as major component; alpha-thalassemia; positive family history; doesn't hybridize alphaglobin cDNA probe; 46,XX |
| Ho SS, Chong SS, Koay ES, Chan YH, Sukumar P, Chiu LL, Wang W, Roy A, Rauff M, Su LL, Biswas A, Choolani M, Microsatellite Markers within --SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis Clinical chemistry53:173-9 2006 |
| PubMed ID: 17158194 |
| |
| Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG, Multiplexed SNP genotyping using nanobarcode particle technology Analytical and bioanalytical chemistry384:658-66 2005 |
| PubMed ID: 16421712 |
| |
| Goldman D, Giri PR, O'Brien SJ, A molecular phylogeny of the hominoid primates as indicated by two- dimensional protein electrophoresis. Proc Natl Acad Sci U S A84:3307-11 1987 |
| PubMed ID: 3106965 |
| Passage Frozen |
10 |
| Split Ratio |
1:4 |
| 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 |
- |
|