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GM20461 LCL from B-Lymphocyte

Description:

HEMOGLOBIN--BETA LOCUS; HBB

Affected:

No

Sex:

Female

Age:

56 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
Family Member 2
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically healthy; hemoglobin Providence; history of renal failure; hemoglobin electrophoresis results: HbA = 44.9%, HbA2 = 2.8%, HbF = 0%, HbS = 0%, Hb Providence = 52.3%; hemoglobin = 14.4 g/dl; MCV = 89.7; sequencing based testing for the entire coding region, promoter region, and 3 deep intronic regions and MLPA testing to detect deletions and duplications revealed no HbS/C and no deletion; donor subject has a heterozygous mutation in the HBB gene: c.249G>C, Lys83Asn (K83N); sister is GM20459.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene HBB
Chromosomal Location 11p15.5
Allelic Variant 1 141900.0227; HEMOGLOBIN PROVIDENCE
Identified Mutation LYS83ASN (c.249G>C); See Moo-Penn et al. (1976), Charache et al. (1977), and Bardakdjian et al. (1985).

Phenotypic Data

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Remarks Clinically healthy; hemoglobin Providence; history of renal failure; hemoglobin electrophoresis results: HbA = 44.9%, HbA2 = 2.8%, HbF = 0%, HbS = 0%, Hb Providence = 52.3%; hemoglobin = 14.4 g/dl; MCV = 89.7; sequencing based testing for the entire coding region, promoter region, and 3 deep intronic regions and MLPA testing to detect deletions and duplications revealed no HbS/C and no deletion; donor subject has a heterozygous mutation in the HBB gene: c.249G>C, Lys83Asn (K83N); sister is GM20459.

Publications

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Moo-Penn WF, Jue DL, Bechtel KC, Johnson MH, Schmidt RM, Hemoglobin Providence A human hemoglobin variant occurring in two forms in vivo The Journal of biological chemistry251:7557-62 1976
PubMed ID: 1002699

External Links

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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
OMIM 141900 HEMOGLOBIN--BETA LOCUS; HBB
Omim Description BETA-THALASSEMIAS, INCLUDED
  DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE, INCLUDED
  ERYTHREMIA, BETA-GLOBIN TYPE, INCLUDED
  HEINZ BODY ANEMIAS, BETA-GLOBIN TYPE, INCLUDED
  HEMOGLOBIN--BETA LOCUS; HBBSICKLE CELL ANEMIA, INCLUDED
  METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED

Culture Protocols

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