Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Mutations of the Hemoglobin Loci
Alternate IDs GM17014 [HEMOGLOBIN--BETA LOCUS; HBB]
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Asian
Ethnicity CHINESE
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Chinese; B-thalassemia; donor subject is a compound heterozygote: one allele has a C>T change at position 654 of intron 2 in the HBB gene [IVS2,C>T,+654 (beta zero)]; the second allele has a 1 bp insertion between codons 71 and 72 (insA codons71/72)
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis
 
Gene HBB
Chromosomal Location 11p15.5
Allelic Variant 1 141900.0368; BETA-ZERO-THALASSEMIA
Identified Mutation IVS2, C>T, +654; A C-to-T change at position 654 of IVS-2 was found in a Chinese by Cheng et al. (1984).
 
Gene HBB
Chromosomal Location 11p15.5
Allelic Variant 2 ; BETA-ZERO-THALASSEMIA
Identified Mutation 1-BP INS, A, BETWEEN CODONS 71 AND 72
Remark Chinese; B-thalassemia; donor subject is a compound heterozygote: one allele has a C>T change at position 654 of intron 2 in the HBB gene [IVS2,C>T,+654 (beta zero)]; the second allele has a 1 bp insertion between codons 71 and 72 (insA codons71/72)
Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A, Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet22(3):239-47 1999
PubMed ID: 10391210
 
Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH Jr, beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A81:2821-5 1984
PubMed ID: 6585831
No data is available
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
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

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