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GM02064 LCL from B-Lymphocyte

Description:

HEMOGLOBIN F, HEREDITARY PERSISTENCE OF

Affected:

Yes

Sex:

Male

Age:

53 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
Alternate IDs GM17342 [HEMOGLOBIN F, HEREDITARY PERSISTENCE OF]
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
Ethnicity GHANAIAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Ghanaian; homozygous for hereditary persistence of fetal Hb (HPFH-2); both G-gamma and A-gamma chains are synthesized; delta and beta globin gene DNA are deleted; heterozygous for elliptocytosis; 46, XY

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
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 

Phenotypic Data

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Remarks Ghanaian; homozygous for hereditary persistence of fetal Hb (HPFH-2); both G-gamma and A-gamma chains are synthesized; delta and beta globin gene DNA are deleted; heterozygous for elliptocytosis; 46, XY

Publications

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Kouprina N, Pavlicek A, Noskov VN, Solomon G, Otstot J, Isaacs W, Carpten JD, Trent JM, Schleutker J, Barrett JC, Jurka J, Larionov V, Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27 Genome research15:1477-86 2005
PubMed ID: 16251457
 
Toomajian C, Kreitman M, Sequence variation and haplotype structure at the human HFE locus. Genetics161(4):1609-23 2002
PubMed ID: 12196404
 
Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA, Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science239:487-91 1988
PubMed ID: 2448875
 
Mullis K, Faloona F, Scharf S, Saiki R, Horn G, Erlich H, Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harb Symp Quant Biol51 Pt 1:263-73 1986
PubMed ID: 3472723
 
Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA, Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature324:163-6 1986
PubMed ID: 3785382
 
Scharf SJ, Horn GT, Erlich HA, Direct cloning and sequence analysis of enzymatically amplified genomic sequences. Science233:1076-8 1986
PubMed ID: 3461561
 
Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N, Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science230:1350-4 1985
PubMed ID: 2999980
 
Semenza GL, Malladi P, Surrey S, Delgrosso K, Poncz M, Schwartz E, Detection of a novel DNA polymorphism in the beta-globin gene cluster. J Biol Chem259:6045-8 1984
PubMed ID: 6327661
 
Tuan D, Feingold E, Newman M, Weissman SM, Forget BG, Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A80:6937-41 1983
PubMed ID: 6196781
 
Simmons JG, Fuller CR, Buchanan PD, Yount WJ, Distribution of surface, cytoplasmic and secreted IgG subclasses in human lymphoblastoid cell lines and normal peripheral blood lymphocytes. Scand J Immunol14:1-13 1981
PubMed ID: 7313555
 
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
 
Fritsch EF, Lawn RM, Maniatis T, Characterisation of deletions which affect the expression of fetal globin genes in man. Nature279:598-603 1979
PubMed ID: 450109
 
Ringelhann B, Konotey-Ahulu FI, Lehmann H, Lorkin PA, A Ghanaian adult, homozygous for hereditary persistence of foetal haemoglobin and heterozygous for elliptocytosis. Acta Haematol43:100-10 1970
PubMed ID: 4986189

External Links

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dbSNP dbSNP ID: 10480
NCBI GTR 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
OMIM 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
Omim Description HEMOGLOBIN F, HEREDITARY PERSISTENCE OF, PANCELLULAR
  HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, PANCELLULAR
  HPFH, PANCELLULAR

Culture Protocols

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Split Ratio 1:4
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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