GM16266

GM16266 LCL from B-Lymphocyte

Description:

HEMOGLOBIN--BETA LOCUS; HBB
SICKLE CELL ANEMIA

Affected:

Yes

Sex:

Male

Age:

No Data

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

Race

Hispanic/Latino

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

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.

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

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 engineering: 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

dbSNP

dbSNP ID: 12347

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