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GM00005 Fibroblast from Skin, Arm

Description:

TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

30 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 Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 45,XX,der(14;22)(14qter>14q10::22q10>22qter)
Species Homo sapiens
Common Name Human
Remarks Clinically normal

Characterizations

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Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 14: TRANSLOCATION Breakpoint 14cen t(14;22)14cen
Chromosome 22: TRANSLOCATION Breakpoint 22cen t(14;22)22cen

Phenotypic Data

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Remarks Clinically normal

Publications

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Page SL, Shin JC, Han JY, Choo KH, Shaffer LG, Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet5(9):1279-88 1996
PubMed ID: 8872467
 
Sundar Raj CV, Church RL, Klobutcher LA, Ruddle FH, Genetics of the connective tissue proteins: assignment of the gene for human type I procollagen to chromosome 17 by analysis of cell hybrids and microcell hybrids. Proc Natl Acad Sci U S A74:4444-8 1977
PubMed ID: 412188
 
Faber HE, Kucherlapati RS, Poulik MD, Ruddle FH, Smithies O, beta2-microglobulin locus on human chromosome 15. Somatic Cell Genet2:141-53 1976
PubMed ID: 69326
 
Faber HE, Kucherlapati RS, Poulik MD, Ruddle FH, Smithies O, A (14;22) Robertsonian translocation, 45 chromosomes. Human Genetic Mutant Cell Repository, Camden, N.J., identification No. GM-5. Cytogenet Cell Genet12:368-9 1973
PubMed ID: 4780772

External Links

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dbSNP dbSNP ID: 18995

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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How to Order
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