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GM03935 Fibroblast

Description:

ISODICENTRIC CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

20 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
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,X,idic(X)(pter>q26::q26>pter)
Species Homo sapiens
Common Name Human
Remarks Primary amenorrhea, underdeveloped uterus, bilateral streak ovaries; dic(X) is late replicating

Characterizations

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Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (+)Xpter>Xq26
Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (-)Xq26>Xqter
Chromosome X: DICENTRIC CHROMOSOME Trisomic Segment Xpter>Xq26

Phenotypic Data

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Remarks Primary amenorrhea, underdeveloped uterus, bilateral streak ovaries; dic(X) is late replicating

Publications

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Higgins AW, Schueler MG, Willard HF, Chromosome engineering: generation of mono- and dicentric isochromosomes in a somatic cell hybrid system. Chromosoma108:256-65 1999
PubMed ID: 10460414
 
Just W, Geerkens C, Held KR, Vogel W, Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum Genet89:240-2 1992
PubMed ID: 1587534
 
Riddell DC, Wang HS, Beckett J, Chan A, Holden JJ, Mulligan LM, Phillips MA, Simpson NE, Wrogemann K, Hamerton JL, et al, Regional localization of 18 human X-linked DNA sequences. Cytogenet Cell Genet42:123-8 1986
PubMed ID: 3460742

External Links

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dbSNP dbSNP ID: 17591

Culture Protocols

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Passage Frozen 8
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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