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GM16265 LCL from B-Lymphocyte

Description:

SICKLE CELL ANEMIA
HEMOGLOBIN--BETA LOCUS; HBB

Affected:

Yes

Sex:

Male

Age:

19 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Mutations of the Hemoglobin Loci
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Black/African American
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; sickle cell anemia; the donor subject is homozygous for 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 homozygous Hb S (HbSS).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene HBB
Chromosomal Location 11p15.5
Allelic Variant 1 141900.0243; HEMOGLOBIN S
Identified Mutation GLU6VAL; The mutation in codon 6 of HBB in Hb S is GAG (GLU) to GTG (VAL).
 
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).

Phenotypic Data

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Remarks Clinically affected; sickle cell anemia; the donor subject is homozygous for 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 homozygous Hb S (HbSS).

Publications

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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

External Links

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dbSNP dbSNP ID: 12346
Gene Cards HBB
Gene Ontology GO:0005344 oxygen transporter activity
GO:0005833 hemoglobin complex
GO:0006810 transport
GO:0015671 oxygen transport
NCBI Gene Gene ID:3043
NCBI GTR 141900 HEMOGLOBIN--BETA LOCUS; HBB
603903 SICKLE CELL ANEMIA
OMIM 141900 HEMOGLOBIN--BETA LOCUS; HBB
603903 SICKLE CELL ANEMIA
Omim Description SICKLE CELL ANEMIA

Culture Protocols

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Split Ratio 1:3
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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