Description:
SICKLE CELL ANEMIA
HEMOGLOBIN--BETA LOCUS; HBB
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Mutations of the Hemoglobin Loci |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
|
Cell Type
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B-Lymphocyte
|
Tissue Type
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Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
Hispanic/Latino
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
MUTATION VERIFICATION |
The HBB gene mutations in this cell line have been verified by 5 laboratories. Methods used for mutation identification include: PCR + DNA sequencing; PCR and heteroduplex analysis; PCR + restriction endonuclease digestion and gel electrophoresis; PCR + allele-specific hybridization. |
|
Gene |
HBB |
Chromosomal Location |
11p15.5 |
Allelic Variant 1 |
141900.0038; HEMOGLOBIN C |
Identified Mutation |
GLU6LYS; The mutation in codon 6 of HBB in Hb C is GAG (GLU) to AAG (LYS). |
|
Gene |
HBB |
Chromosomal Location |
11p15.5 |
Allelic Variant 2 |
141900.0243; HEMOGLOBIN S |
Identified Mutation |
GLU6VAL; The mutation in codon 6 of HBB in Hb S is GAG (GLU) to GTG (VAL). |
Remarks |
Clinically affected; hemoglobin SC disease; the donor subject is a compound heterozygote; one allele carries a G-to-A transition (GAG>AAG) in the HBB gene which results in the substitution of lysine for glutamic acid [GLU6LYS (E6K)] at codon 6; the second allele has an A-to-T transversion (GAG>GTG) at nucleotide 20 in exon 1 of the HBB gene which results in the substitution of valine for glutamic acid [GLU6VAL (E6V)] at codon 6; the genotype is Hb SC. |
Chang MM, Natoli ME, Wilkinson AF, Tubman VN, Airewele GE, Richards-Kortum RR, A multiplexed, allele-specific recombinase polymerase amplification assay with lateral flow readout for sickle cell disease detection Lab on a chip24:4115-4127 2024 |
PubMed ID: 39051493 |
|
Balderston S, Taulbee JJ, Celaya E, Fung K, Jiao A, Smith K, Hajian R, Gasiunas G, Kutanovas S, Kim D, Parkinson J, Dickerson K, Ripoll JJ, Peytavi R, Lu HW, Barron F, Goldsmith BR, Collins PG, Conboy IM, Siksnys V, Aran K, Discrimination of single-point mutations in unamplified genomic DNA via Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering24:4115-4127 2020 |
PubMed ID: 33820980 |
|
Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005 |
PubMed ID: 16244288 |
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