GM10176
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Alternate IDs |
GM17025 [TRANSLOCATED CHROMOSOME] |
|
GM17314 [TRANSLOCATED CHROMOSOME] |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
Other
|
|
Ethnicity
|
GUYANAN
|
|
Family Member
|
2
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XY,t(3;4)(3pter>3q25::4q35>4qter; 4pter>4q35::3q25>3qter),9qh+
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 3: TRANSLOCATION Breakpoint 3q25 t(3;4)3q25 |
|
Chromosome 4: TRANSLOCATION Breakpoint 4q35 t(3;4)4q35 |
| Remarks |
Bright, normal development, & nondysmorphic; 2 sibs died in their first year of life of unknown cause |
| Bleasby K, Hall LA, Perry JL, Mohrenweiser HW, Pritchard JB, Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6) The Journal of pharmacology and experimental therapeutics314:923-31 2005 |
| PubMed ID: 15914676 |
| |
| Millikan RC, Hummer A, Begg C, Player J, de Cotret AR, Winkel S, Mohrenweiser H, Thomas N, Armstrong B, Kricker A, Marrett LD, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Busam K, From L, Mujumdar U, Berwick M, Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma Study Carcinogenesis27:610-8 2005 |
| PubMed ID: 16258177 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|