Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Mutations of the Hemoglobin Loci
Alternate IDs GM17085 [HEMOGLOBIN--ALPHA LOCUS 1; HBA1]
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Asian
Ethnicity FILIPINO
Family Member 3
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Filipino; fetus (GM10796 and 10797 Fibroblast) with hydrops fetalis; asymptomatic; alpha-1 thalassemia heterozygote (--SEA/alpha alpha).
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene HBA1
Chromosomal Location 16pter-p13.3
Allelic Variant 1 ; ALPHA-THALASSEMIA TYPE 1
Identified Mutation SEA Type Deletion
Remark Filipino; fetus (GM10796 and 10797 Fibroblast) with hydrops fetalis; asymptomatic; alpha-1 thalassemia heterozygote (--SEA/alpha alpha).
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
No data is available
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium