Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
parent
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,t(4;5)(4pter>4q31.1::5p15>5pter; 5qter>5p15::4q31.1>4qter),del(21)(qter> p11:)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 21: DELETION Aneuploid Segment (-)21pter>21p11 |
|
Chromosome 4: TRANSLOCATION Breakpoint 4q31 t(4;5)4q31 |
|
Chromosome 5: TRANSLOCATION Breakpoint 5p15 t(4;5)5p15 |
Remarks |
Clinically normal; has one normal child; one child died and appeared to have Down's phenotype |
Passage Frozen |
2 |
Split Ratio |
1:5 |
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 |
- |
|
|