Description:
CHROMOSOME INSERTION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
Black/African American
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,ins(5;6)(5pter>5q33::6q15>6q25:: 5q33>5qter;6pter>6q15::6q25>6qter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
9 |
|
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 5: INSERTION Breakpoint 5q33 ins(5;6)5q33 |
|
Chromosome 6: INSERTION Breakpoint 6q15 ins(5;6)6q15 |
|
Chromosome 6: INSERTION Breakpoint 6q25 ins(5;6)6q25 |
Remarks |
Mother and half-brother have same balanced insertion; normal phenotype |
Chen H, Tyrkus M, Cohen F, Woolley PV Jr, Mayeda K, Bhogaonker A, Espirtu CE, Simpson W, Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27). Clin Genet9:631-7 1976 |
PubMed ID: 1277576 |
Passage Frozen |
9 |
Split Ratio |
1:2 |
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 |
- |
|
|