GM02324
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,9qh+,t(16;22)(16qter>16p13.11::22q11.21 >22qter;22pter>22q11.21::16p13.11> 16pter)
|
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 16: TRANSLOCATION Breakpoint 16p13 t(16;22)16p13 |
|
Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(16;22)22q11 |
Remarks |
Mother of GM02325 Fibroblast |
Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE, Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet12(15):1823-37 2003 |
PubMed ID: 12874103 |
|
Dauwerse JG, Wessels JW, Giles RH, Wiegant J, van der Reijden BA, Fugazza G, Jumelet EA, Smit E, Baas F, Raap AK, et al, Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo. Hum Mol Genet2:1527-34 1993 |
PubMed ID: 8268905 |
|
Germino GG, Barton NJ, Lamb J, Higgs DR, Harris P, Xiao GH, Scherer G, Nakamura Y, Reeders ST, Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am J Hum Genet46:925-33 1990 |
PubMed ID: 2339691 |
|
Kievits T, Dauwerse JG, Wiegant J, Devilee P, Breuning MH, Cornelisse CJ, van Ommen GJ, Pearson PL, Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet53:134-6 1990 |
PubMed ID: 2369840 |
|
Mulley JC, Barton N, Callen DF, Localisation of human PGP and HAGH genes to 16p13.3. Cytogenet Cell Genet53:175-6 1990 |
PubMed ID: 2164460 |
|
Nicholls RD, Jonasson JA, McGee JO, Patil S, Ionasescu VV, Weatherall DJ, Higgs DR, High resolution gene mapping of the human alpha globin locus. J Med Genet24:39-46 1987 |
PubMed ID: 2879933 |
|
Simmers RN, Mulley JC, Hyland VJ, Callen DF, Sutherland GR, Mapping the human alpha globin gene complex to 16p13.2----pter. J Med Genet24:761-6 1987 |
PubMed ID: 3430555 |
|
Fukushige S, Matsubara K, Yoshida M, Sasaki M, Suzuki T, Semba K, Toyoshima K, Yamamoto T, Localization of a novel v-erbB-related gene, c-erbB-2, on human chromosome 17 and its amplification in a gastric cancer cell line. Mol Cell Biol6:955-8 1986 |
PubMed ID: 2430175 |
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 |
- |
|