Description:
TRANSLOCATED CHROMOSOME
|
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(1;7)(1qter>1p34::7p13>7pter; 7qter>7p13::1p34>1pter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1p34 t(1;7)1p34 |
|
Chromosome 7: TRANSLOCATION Breakpoint 7p13 t(1;7)7p13 |
| Remarks |
Phenotypically normal; history of repeated abortions; one phenotypically normal son with same translocation |
| Vortkamp A, Thias U, Gessler M, Rosenkranz W, Kroisel PM, Tommerup N, Kruger G, Gotz J, Pelz L, Grzeschik KH, A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p. Genomics11:737-43 1991 |
| PubMed ID: 1663489 |
| |
| Kondo I, Shimizu N, Mapping of the human gene for epidermal growth factor receptor (EGFR) on the p13 leads to q22 region of chromosome 7. Cytogenet Cell Genet35:9-14 1983 |
| PubMed ID: 6297856 |
| |
| Kondo, Regional mapping of the human gene for epidermal growth factor receptor(EGFR). Cytogenet Cell Genet32:292 (1982):9-14 1982 |
| PubMed ID: 6297856 |
| |
| Jackson LG, Sherwood MF, Miller RC, Aronson MM, Greene AE, Coriell LL, A (1;7) translocation, balanced, from a subject associated with repeated abortion. Respository identification No. GM-1356. Cytogenet Cell Genet21:175 1978 |
| PubMed ID: 657849 |
| Passage Frozen |
2 |
| 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 |
- |
|
|