Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
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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;21)(1pter>1q12::21q22.3> 21qter;21pter>21q22.3::1q12>1qter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1q12 t(1;21)1q12 |
|
Chromosome 21: TRANSLOCATION Breakpoint 21q22 t(1;21)21q22 |
Remarks |
Healthy; has had two consecutive miscarriages at the 12th week of gestation |
Schindler D, Haaf T, Schmid M, 5-Azacytidine treatments in the characterization of a t(1;21)(q12;q22) carrier karyotype. Clin Genet27:72-7 1985 |
PubMed ID: 2579751 |
|
Schmid M, Haaf T, Grunert D, 5-Azacytidine-induced undercondensations in human chromosomes. Hum Genet67:257-63 1984 |
PubMed ID: 6205969 |
Passage Frozen |
4 |
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 Heat Inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|