NA00005
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Arm
|
Cell Type
|
Fibroblast
|
Tissue Type
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Skin
|
Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
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
|
|
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 |
Remarks |
Clinically normal |
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 |
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