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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2
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Relation to Proband
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mother
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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,XX,t(6;21)(q22.2;p11.2)[15]/46,XX,t(6;21)(q22.2;p11.2),t(7;19)(p11.2;p13.1)[4]/46,XX,add(1)(p32),add(6)(p12),t(6;21)(q22.1;p11.2),add(8)(q24),add(9)(p13),-11,add(12)(p11.2),add(18)(q11.2),+mar[4]/46,XX,del(1)(q41),t(6;21)(q22.1;p11.2),add(7)(q22),add(15)(p11.1)[2]
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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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| PDL at Freeze |
5.76 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 21: TRANSLOCATION Breakpoint 21p11 t(6;21)21p11 |
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Chromosome 21: TRANSLOCATION Breakpoint 21p11.2 |
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Chromosome 6: TRANSLOCATION Breakpoint 6q22 t(6;21)6q22 |
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Chromosome 6: TRANSLOCATION Breakpoint 6q22.2 |
| Remarks |
Clinically normal |
| Fujita H, Umezuki Y, Imamura K, Ishikawa D, Uchimura S, Nara A, Yoshimori T, Hayashizaki Y, Kawai J, Ishidoh K, Tanaka Y, Himeno M, Mammalian class E Vps proteins, SBP1 and mVps2/CHMP2A, interact with and regulate the function of an AAA-ATPase SKD1/Vps4B. J Cell Sci117(Pt 14):2997-3009 2004 |
| PubMed ID: 15173323 |
| Cumulative PDL at Freeze |
9.3 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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