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GM00610 Fibroblast

Description:

TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

11 WK (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,XX,t(6;18)(6pter>6q21::18p11>18pter; 18qter>18p11::6q21>6qter)
Species Homo sapiens
Common Name Human
Remarks Phenotypically normal

Characterizations

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Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 18: TRANSLOCATION Breakpoint 18p11 t(6;18)18p11
Chromosome 6: TRANSLOCATION Breakpoint 6q21 t(6;18)6q21

Phenotypic Data

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Remarks Phenotypically normal

Publications

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Chong SS, Kristjansson K, Zoghbi HY, Hughes MR, Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23. Genomics18:355-359 1993
PubMed ID: 8288239
 
Boyle JM, Hey Y, Myers K, Stern PL, Grzeschik FH, Ikehara Y, Misumi Y, Fox M, Regional localization of a trophoblast antigen-related sequence and 16 other sequences to human chromosomes 6q using somatic cell hybrids. Genomics12:693-8 1992
PubMed ID: 1572643
 
Cutting GR, Curristin S, Zoghbi H, O'Hara B, Seldin MF, Uhl GR, Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics12:801-6 1992
PubMed ID: 1315307
 
Ledley FD, Lumetta MR, Zoghbi HY, VanTuinen P, Ledbetter SA, Ledbetter DH, Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet42:839-46 1988
PubMed ID: 2897160
 
Naylor SL, Sakaguchi AY, Shows TB, Grzeschik KH, Holmes M, Zasloff M, Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6. Proc Natl Acad Sci U S A80:5027-31 1983
PubMed ID: 6308668
 
Johannsmann R, Hellkuhl B, Grzeschik KH, Regional mapping of human chromosome 3. Assignment of a glutathione peroxidase-1 gene to 3p13 leads to 3q12. Hum Genet56:361-3 1981
PubMed ID: 7239518
 
Grzeschik KH, Assignment of a structural gene for a fourth human diaphorase (DIA4) to chromosome 16 in man-mouse somatic cell hybrids. Hum Genet53:189-93 1980
PubMed ID: 6928411
 
Klinger HP, Aronson MM, Greene AE, Coriell LL, A (6;18) translocation, 46 chromosomes. Repository identification No. GM-610. Cytogenet Cell Genet15:402-3 1975
PubMed ID: 1225500

External Links

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dbSNP dbSNP ID: 16878

Culture Protocols

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Passage Frozen 7
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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