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GM00118 Fibroblast from Uterine muscle, Uterus

Description:

TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

29 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Biopsy Source Uterus
Cell Type Fibroblast
Tissue Type Uterine muscle
Transformant Untransformed
Sample Source Fibroblast from Uterine muscle, Uterus
Race White
Ethnicity DANISH
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XX,der(15)(15qter>15p1:: Yq11>Yqter)pat
Species Homo sapiens
Common Name Human
Remarks Uterine tissue fibroblast culture; phenotypically normal

Characterizations

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Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment (-)15pter>15p11
Chromosome Y: DERIVATIVE CHROMOSOME Aneuploid Segment (+)Yq11>Yqter

Phenotypic Data

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Remarks Uterine tissue fibroblast culture; phenotypically normal

Publications

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Herzing LB, Cook Jr EH Jr, Ledbetter DH, Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications. Hum Mol Genet11(15):1707-18 2002
PubMed ID: 12095913
 
Lin MS, Zhang A, Fujimoto A, Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication. Hum Genet96(5):572-6 1995
PubMed ID: 8530005
 
Tyler-Smith C, Oakey RJ, Larin Z, Fisher RB, Crocker M, Affara NA, Ferguson-Smith MA, Muenke M, Zuffardi O, Jobling MA, Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet5:368-75 1993
PubMed ID: 8298645
 
Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984
PubMed ID: 6093508
 
Hahnenmann N, Miller RC, Greene AE, Coriell LL, A (Y;15) translocation, 46 chromosomes. Repository identification No. GM-118. Cytogenet Cell Genet15:408-409 1975
PubMed ID: 1225503

External Links

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dbSNP dbSNP ID: 17074

Culture Protocols

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Passage Frozen 5
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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