Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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arr 22q11.1q11.21(15034356-17964688)x1
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Species
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Homo sapiens
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Common Name
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Human
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| Passage Frozen |
6 |
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| 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 |
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| Cytogenetics |
Chromosome 11: DERIVATIVE CHROMOSOME Aneuploid Segment (-)11q25>11qter |
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Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (-)22pter>22q11 |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| 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 |
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| Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A, Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum Mol Genet4:551-8 1995 |
| PubMed ID: 7633403 |
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| Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, Roe BA, Groffen J, Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region. Genomics29:451-6 1995 |
| PubMed ID: 8666394 |
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| Kurahashi H, Akagi K, Inazawa J, Ohta T, Niikawa N, Kayatani F, Sano T, Okada S, Nishisho I, Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum Mol Genet4:541-9 1995 |
| PubMed ID: 7633402 |
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| Mulder MP, Wilke M, Langeveld A, Wilming LG, Hagemeijer A, van Drunen E, Zwarthoff EC, Riegman PH, Deelen WH, van den Ouweland AM, et al, Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183). Hum Genet96:133-41 1995 |
| PubMed ID: 7635459 |
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| Halford S, Wadey R, Roberts C, Daw SC, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, et al, Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Hum Mol Genet2:2099-2107 1993 |
| PubMed ID: 8111380 |
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| Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A, Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics17:403-7 1993 |
| PubMed ID: 8406492 |
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| Schuchman EH, Astrin KH, Aula P, Desnick RJ, Regional assignment of the structural gene for human alpha-L- iduronidase. Proc Natl Acad Sci U S A81:1169-73 1984 |
| PubMed ID: 6422468 |
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| Lebo RV, Carrano AV, Burkhart-Schultz K, Dozy AM, Yu LC, Kan YW, Assignment of human beta-, gamma-, and delta-globin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis. Proc Natl Acad Sci U S A76:5804-8 1979 |
| PubMed ID: 293684 |
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| Fu W, Borgaonkar DS, Ladewig PP, Weaver J, Pomerance HH, Structural aberrations of the long arm of chromosome no. 22. Report fo a family with translocation t(11;22) (q25;q11). Clin Genet10:329-36 1976 |
| PubMed ID: 991443 |
| Passage Frozen |
6 |
| 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 |
- |
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