Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,X,t(X;3)(Xpter>Xq28::3q21>3qter; 3pter>3q21::Xq28>Xqter)
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 3: TRANSLOCATION Breakpoint 3q21 t(X;3)3q21 |
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Chromosome X: TRANSLOCATION Breakpoint Xq28 t(X;3)Xq28 |
| Remarks |
Clinically normal; Finnish; same patient. as GM00194; in 158 metaphases, late replication studies showed 102 normal X chromosomes and 56 abnormal X chromosomes as late replicating |
| Rocchi M, Covone A, Romeo G, Faraonio R, Colantuoni V, Regional mapping of RBP4 to 10q23----q24 and RBP1 to 3q21----q22 in man. Somat Cell Mol Genet15:185-90 1989 |
| PubMed ID: 2928844 |
| |
| Takahashi Y, Fukushige S, Murotsu T, Matsubara K, Structure of human cholecystokinin gene and its chromosomal location. Gene50:353-60 1986 |
| PubMed ID: 3582983 |
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| Hellkuhl B, de la Chapelle A, Grzeschik KH, Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet60:126-9 1982 |
| PubMed ID: 6951798 |
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| Owerbach D, Rutter WJ, Martial JA, Baxter JD, Shows TB, Genes for growth hormone, chorionic somatommammotropin, and growth hormones-like gene on chromosome 17 in humans. Science209:289-92 1980 |
| PubMed ID: 7384802 |
| Passage Frozen |
7 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
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