Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,t(2;8)(2pter>2q37::8q13>8qter;8pter>8q13::2q37>2qter)mat
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
10 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 2: TRANSLOCATION Breakpoint 2q37 t(2;8)2q37 |
|
Chromosome 2: TRANSLOCATION Breakpoint 2q37 |
|
Chromosome 8: TRANSLOCATION Breakpoint 8q13 t(2;8)8q13 |
|
Chromosome 8: TRANSLOCATION Breakpoint 8q13 |
Remarks |
Secondary amenorrhea subsequently resolved spontaneously; mother has no history of amenorrhea |
Yamanashi Y, Fukushige S, Semba K, Sukegawa J, Miyajima N, Matsubara K, Yamamoto T, Toyoshima K, The yes-related cellular gene lyn encodes a possible tyrosine kinase similar to p56lck. Mol Cell Biol7:237-43 1987 |
PubMed ID: 3561390 |
|
Bucknall WE, Aronson MM, Greene AE, Coriell LL, A (2;8) translocation, balanced, 46 chromosomes. Repository identification no. GM-845. Cytogenet Cell Genet21:111 1978 |
PubMed ID: 648194 |
Passage Frozen |
10 |
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 |
- |
|
|