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 |
| Alternate IDs |
GM17312 [TRANSLOCATED CHROMOSOME] |
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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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Ethnicity
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SOUTH AMERICAN
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Family Member
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1
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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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46,X,t(X;11)(q11.1;p13).arr 11p12p11.2(43132252-46685641)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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Remarks
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| Passage Frozen |
15 |
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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: TRANSLOCATION Aneuploid Segment (-)11p13>11p11.2 |
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Chromosome 11: TRANSLOCATION Breakpoint 11p13 |
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Chromosome 11: TRANSLOCATION Breakpoint 11p13 t(X;11)11p13 |
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Chromosome X: TRANSLOCATION Breakpoint Xq11 t(X;11)Xq11 |
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Chromosome X: TRANSLOCATION Breakpoint Xq11.1 |
| Remarks |
See GM03316 Lymphoid; South American; in lymphoblast line, normal X is late replicating; mental retardation with bizarre dysmorphology syndrome: epicanthus, hypertelorism, and trigonocephaly |
| 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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| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| Lafreniere RG, Brown CJ, Powers VE, Carrel L, Davies KE, Barker DF, Willard HF, Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. Genomics11:352-63 1991 |
| PubMed ID: 1685139 |
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| Brown CJ, Willard HF, Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect. Am J Hum Genet45:592-8 1989 |
| PubMed ID: 2491017 |
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| Spurr NK, Gough AC, Gosden J, Rout D, Porteous DJ, van Heyningen V, Docherty AJ, Restriction fragment length polymorphism analysis and assignment of the metalloproteinases stromelysin and collagenase to the long arm of chromosome 11. Genomics2:119-27 1988 |
| PubMed ID: 2900807 |
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| Fowler ML, Nakai H, Byers MG, Fukushima H, Eddy RL, Henry WM, Haley LL, O'Brien JS, Shows TB, Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2. Cytogenet Cell Genet43:103-8 1986 |
| PubMed ID: 3780313 |
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| Kluve-Beckerman B, Naylor SL, Marshall A, Gardner JC, Shows TB, Benson MD, Localization of human SAA gene(s) to chromosome 11 and detection of DNA polymorphisms. Biochem Biophys Res Commun137:1196-204 1986 |
| PubMed ID: 3015139 |
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| Taggart RT, Mohandas TK, Shows TB, Bell GI, Variable numbers of pepsinogen genes are located in the centromeric region of human chromosome 11 and determine the high-frequency electrophoretic polymorphism. Proc Natl Acad Sci U S A82:6240-4 1985 |
| PubMed ID: 3862130 |
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| Naylor SL, Sakaguchi AY, Barker D, White R, Shows TB, DNA polymorphic loci mapped to human chromosomes 3, 5, 9, 11, 17, 18, and 22. Proc Natl Acad Sci U S A81:2447-51 1984 |
| PubMed ID: 6585809 |
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| Koch GA, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB, Assignment of the human phosphoserine phosphatase gene (PSP) to the pter leads to q22 region of chromosome 7. Cytogenet Cell Genet35:67-9 1983 |
| PubMed ID: 6297854 |
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| Larizza L, Rampoldi E, Mottura A, Doneda L, Miggiano V, Barlati S, Human fibroblasts X mouse cell hybrids, containing a human 11/X translocation, do not express human fibronectin. Cell Biol Int Rep7:325-32 1983 |
| PubMed ID: 6850863 |
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| Leinwand LA, Fournier RE, Nadal-Ginard B, Shows TB, Multigene family for sarcomeric myosin heavy chain in mouse and human DNA: localization on a single chromosome. Science221:766-9 1983 |
| PubMed ID: 6879174 |
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| Naylor SL, Sakaguchi AY, Shows TB, Grzeschik KH, Holmes M, Zasloff M, Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6. Proc Natl Acad Sci U S A80:5027-31 1983 |
| PubMed ID: 6308668 |
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| Venta PJ, Shows TB, Curtis PJ, Tashian RE, Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. Proc Natl Acad Sci U S A80:4437-40 1983 |
| PubMed ID: 6410391 |
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| Koch GA, Schoen RC, Klebe RJ, Shows TB, Assignment of a fibronection gene to human chromosome 2 using monoclonal antibodies. Exp Cell Res141:293-302 1982 |
| PubMed ID: 6183132 |
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| Lebo RV, Kan YW, Cheung MC, Carrano AV, Yu LC, Chang JC, Cordell B, Goodman HM, Assigning the polymorphic human insulin gene to the short arm of chromosome 11 by chromosome sorting. Hum Genet60:10-15 1982 |
| PubMed ID: 6281170 |
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| Silberstein DL, Shows TB, Gene for glutathione S-transferase-1 (GST1) is on human chromosome 11. Somatic Cell Genet8:667-75 1982 |
| PubMed ID: 6958072 |
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| Migeon BR, Brown TR, Axelman J, Migeon CJ, Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse. Proc Natl Acad Sci U S A78:6339-43 1981 |
| PubMed ID: 6947233 |
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| Owerbach D, Bell GI, Rutter WJ, Brown JA, Shows TB, The insulin gene is located on the short arm of chromosome 11 in humans. Diabetes30:267-70 1981 |
| PubMed ID: 7009275 |
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| Owerbach D, Rutter WJ, Roberts JL, Whitfeld P, Shine J, Seeburg PH, Shows TB, The proopiocortin (adrenocorticotropin/beta-lipoprotein) gene is located on chromosome 2 in humans. Somatic Cell Genet7:359-69 1981 |
| PubMed ID: 7292253 |
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| Yu RL, Aronson MM, Nichols WW, High-resolution bands in human fibroblast chromosomes induced by actinomycin D. Cytogenet Cell Genet31:111-4 1981 |
| PubMed ID: 7307580 |
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| Owerbach D, Rutter WJ, Shows TB, Gray P, Goeddel DV, Lawn RM, Leukocyte and fibroblast interferon genes are located on human chromosome 9. Proc Natl Acad Sci U S A78:3123-7 1980 |
| PubMed ID: 6166943 |
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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 |
| Passage Frozen |
15 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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