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GM02232 LCL from B-Lymphocyte

Description:

HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
BETA-THALASSEMIA
HEMOGLOBIN--BETA LOCUS; HBB

Affected:

Yes

Sex:

Female

Age:

48 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 White
Ethnicity GREEK
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks Greek; double heterozygote for hereditary persistence of fetal hemoglobin & B-thalassemia trait; 46,XX; 24% of cells show random chromosome loss; 15% are polyploid; A-gamma globin chain synthesis predominates

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 and by Chromosome Analysis
 

Phenotypic Data

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Remarks Greek; double heterozygote for hereditary persistence of fetal hemoglobin & B-thalassemia trait; 46,XX; 24% of cells show random chromosome loss; 15% are polyploid; A-gamma globin chain synthesis predominates

Publications

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Tuan D, Murnane MJ, deRiel JL, Forget BG, Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. Nature285:335-7 1980
PubMed ID: 6154897
 
Fessas, Hereditary persistence of fetal hemoglobin in Greece. A study and a comparison. Blood24:223 (1964):335-7 1964
PubMed ID: 6154897

External Links

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dbSNP dbSNP ID: 10494
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 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
141900 HEMOGLOBIN--BETA LOCUS; HBB
613985 BETA-THALASSEMIA
OMIM 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
141900 HEMOGLOBIN--BETA LOCUS; HBB
613985 BETA-THALASSEMIA
Omim Description HEMOGLOBIN F, HEREDITARY PERSISTENCE OF, PANCELLULAR
  HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, PANCELLULAR
  HPFH, PANCELLULAR

Culture Protocols

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Split Ratio 1:3
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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How to Order
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