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NA11448 DNA from Somatic cell hybrid

Description:

CHROMOSOME 4 REGIONAL MAPPING PANEL SOMATIC CELL HYBRIDS

Affected:

No Data

Sex:

No Data

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Hybrids
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Somatic cell hybrid
Transformant Untransformed
Sample Source DNA from Somatic cell hybrid
Confirmation Clinical summary/Case history
ISCN Human/Chinese hamster somatic cell hybrid retaining a human del(4), #5, & #8
Remarks Line HHW882; human/Chinese hamster somatic cell hybrid retaining a human del(4)(4qter>4p16.1:) in 92% of cells; 100% of cells have a human #5 & 80% have a human #8; grown in culture medium containing 0.2mM proline at 39C

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 somatic cell hybrid gave a negative result with a primer for Yq11, DYS227.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 4 DNA from this somatic cell hybrid gave positive results in Southern blot hybridization analyses with probes for 4p16.2p15.1, D4S20, and 4q21q23, ADH3. PCR analysis of DNA from this somatic cell hybrid gave positive results with primers for 4p15.3, QDPR, 4q11-q13, AFP, 4q25, EGF, 4q28, FGA, 4q31-q33, D4S1626, and 4q35, F11, and gave negative results with primers for 4p16.3, D4S126, and 4p16.3, PDEB.2.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 5 DNA from this somatic cell hybrid gave positive results in Southern blot hybridization analyses with probes for 5pterp15.3, D5S10, and 5q33q35, PDGFRB. PCR analysis of DNA from this somatic cell hybrid gave positive results with primers for 5p14-p12, C9, 5p15.3-p15.1, D5S208, 5q11.2q13.1, D5S351, 5q13.3-q14, HMGCR, 5q32, D5S372, and 5q34-q35, GABRA1.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 7 DNA from this somatic cell hybrid gave negative results in Southern blot hybridization analyses with probes for 7pterp15, ASSP11, and 7q31.1q31.2, D7S18.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 8 DNA from this somatic cell hybrid gave a positive result in Southern blot hybridization analysis with a probe for 8p21, NEFL. PCR analysis of DNA from this somatic cell hybrid gave positive results with primers for 8p12, D8S87, 8p21-p11.2, LHRH, 8p23-p22, DEF1, 8q11, MOS, 8q11.22-q12, D8S260, 8q22.2, D8S270, and 8q24, TG.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 18 DNA from this somatic cell hybrid gave negative results in Southern blot hybridization analyses with probes for 18q12.3, D18S6, and 18q23, MBP.
 

Phenotypic Data

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Remarks Line HHW882; human/Chinese hamster somatic cell hybrid retaining a human del(4)(4qter>4p16.1:) in 92% of cells; 100% of cells have a human #5 & 80% have a human #8; grown in culture medium containing 0.2mM proline at 39C

Publications

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Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM, Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet75(1):44-53 2004
PubMed ID: 15154112
 
Jiang G, Yang F, Van Overveld PG, Vedanarayanan V, Van Der Maarel S, Ehrlich M, Testing the Position-Effect Variegation Hypothesis for Facioscapulohumeral Muscular Dystrophy By Analysis of Histone Modification and Gene Expression in Subtelomeric 4q. Hum Mol GenetEpub ahead of print:44-53 2003
PubMed ID: 14506132
 
Soltysik-Espanola M, Rogers RA, Jiang S, Kim TA, Gaedigk R, White RA, Avraham H, Avraham S, Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain. Mol Biol Cell10:2361-75 1999
PubMed ID: 10397770
 
Inazawa J, Ariyama T, Abe T, Druck T, Ohta M, Huebner K, Yanagisawa J, Reed JC, Sato T, PTPN13, a fas-associated protein tyrosine phosphatase, is located on the long arm of chromosome 4 at band q21.3. Genomics31:240-2 1996
PubMed ID: 8824809

External Links

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dbSNP dbSNP ID: 11581
Pricing
International/Commercial/For-profit:
$449.00USD
U.S. Academic/Non-profit/Government:
$263.00USD
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