Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
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Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,inv(5)(pter>p13::q13>p13::q13> qter),t(17;22)(17qter>17p13::22q11> 22qter;22pter>22q11::17p13>17pter)
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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
|
|
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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Cytogenetics |
Chromosome 17: TRANSLOCATION Breakpoint 17p13 t(17;22)17p13 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(17;22)22q11 |
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Chromosome 5: INVERSION Breakpoint 5p13 inv(5)5p13 |
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Chromosome 5: INVERSION Breakpoint 5q13 inv(5)5q13 |
Remarks |
See GM03197 Lymphoid; no hematological disorder; habitual aborter; normal phenotype |
ten Hoeve J, Morris C, Poustka A, Groffen J, Heisterkamp N, Isolation of NotI sites from chromosome 22q11. Genomics18:588-97 1993 |
PubMed ID: 7905853 |
|
McBride OW, Merry D, Givol D, The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17p13). Proc Natl Acad Sci U S A83:130-4 1986 |
PubMed ID: 3001719 |
|
Testa JR, Rowley JD, Hawkins C, Yu RL, Aronson MM, Mulivor RA, Greene AE, Coriell LL, A balanced translocation (17;22) and a pericentric inversion of chromosome 5. Repository identification No. GM3196. Cytogenet Cell Genet27:270 1980 |
PubMed ID: 7438788 |
Passage Frozen |
3 |
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 |
- |
|
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