Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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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;3)(q28;q21)
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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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| PDL at Freeze |
6.17 |
| Passage Frozen |
19 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 3: TRANSLOCATION Breakpoint 3q21 t(X;3)3q21 |
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Chromosome X: TRANSLOCATION Breakpoint Xq28 t(X;3)Xq28 |
| Remarks |
Clinically normal; Finnish; poor growing culture; in 20 metaphases, late replication studies showed 15 normal X chromosomes and 5 abnormal X chromosomes as late replicating; same patient as GM02899 |
| Leach RJ, Chinn R, Reus BE, Hayes S, Schantz L, Dubois B, Overhauser J, Ballabio A, Drabkin H, Lewis TB, et al, Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. Genomics24:549-56 1994 |
| PubMed ID: 7713507 |
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| Berchtold MW, Koller M, Egli R, Rhyner JA, Hameister H, Strehler EE, Localization of the intronless gene coding for calmodulin-like protein CLP to human chromosome 10p13-ter. Hum Genet90:496-500 1993 |
| PubMed ID: 8428750 |
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| Noguchi T, Mattei MG, Oberle I, Planche J, Imbert J, Pelassy C, Birg F, Birnbaum D, Localization of the mcf.2 transforming sequence to the X chromosome. EMBO J6:1301-7 1987 |
| PubMed ID: 3038515 |
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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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| Oberle I, Camerino G, Kloepfer C, Moisan JP, Grzeschik KH, Hellkuhl B, Hors-Cayla MC, Van Cong N, Weil D, Mandel JL, Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet72:43-9 1986 |
| PubMed ID: 3002952 |
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| Prowse KR, Tricoli JV, Klebe RJ, Shows TB, Assignment of the human fibronectin structural gene to chromosome 2. Cytogenet Cell Genet41:42-6 1986 |
| PubMed ID: 3455912 |
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| Geldwerth D, Bishop C, Guellaen G, Koenig M, Vergnaud G, Mandel JL, Weissenbach J, Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. EMBO J4:1739-43 1985 |
| PubMed ID: 4029125 |
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| Oberle I, Drayna D, Camerino G, White R, Mandel JL, The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A82:2824-8 1985 |
| PubMed ID: 2986139 |
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| Camerino G, Grzeschik KH, Jaye M, De La Salle H, Tolstoshev P, Lecocq JP, Heilig R, Mandel JL, Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A81:498-502 1984 |
| PubMed ID: 6320191 |
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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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| 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, Shen LP, Bell GI, Rutter WJ, Shows TB, Polymorphic human somatostatin gene is located on chromosome 3. Proc Natl Acad Sci U S A80:2686-9 1983 |
| PubMed ID: 6133281 |
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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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| Hellkuhl B, de la Chapelle A, Grzeschik KH, Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet60:126-9 1982 |
| PubMed ID: 6951798 |
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| Naylor, Regional localization of GLB1 and ACY1 to the p21>q21 region of human chromosome 3. Cytogenet Cell Genet32:301 (1982):126-9 1982 |
| PubMed ID: 6951798 |
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| Naylor SL, Elliott RW, Brown JA, Shows TB, Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes. Am J Hum Genet34:235-44 1982 |
| PubMed ID: 6803586 |
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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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| Johannsmann R, Hellkuhl B, Grzeschik KH, Regional mapping of human chromosome 3. Assignment of a glutathione peroxidase-1 gene to 3p13 leads to 3q12. Hum Genet56:361-3 1981 |
| PubMed ID: 7239518 |
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| Grzeschik KH, Assignment of a structural gene for a fourth human diaphorase (DIA4) to chromosome 16 in man-mouse somatic cell hybrids. Hum Genet53:189-93 1980 |
| PubMed ID: 6928411 |
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| Koch G, Shows TB, Somatic cell genetics of adenosine deaminase expression and severe combined immunodeficiency disease in humans. Proc Natl Acad Sci U S A77:4211-5 1980 |
| PubMed ID: 6933468 |
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| Voss R, Lerer I, Povey S, Solomon E, Bobrow M, Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. Ann Hum Genet44:1-9 1980 |
| PubMed ID: 6948533 |
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| Hellkuhl B, Grzeschik KH, Partial reactivation of a human inactive X chromosome in human-mouse somatic cell hybrids. Cytogenet Cell Genet22:527-30 1978 |
| PubMed ID: 752537 |
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| De La Chapelle A, Schroder J, Klinger HP, Aronson MM, Miller RC, Greene AE, Coriell LL, An (X;3) translocation, balanced, 46 chromosomes. Repository identification No. GM-194. Cytogenet Cell Genet15:404-5 1975 |
| PubMed ID: 1225501 |
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| de la Chapelle, Apparently non-reciprocal balanced human (3q-;Xq+) translocation: Late replication of structurally normal X. Chromosomes Today4:261 (1973):404-5 1973 |
| PubMed ID: 1225501 |
| Passage Frozen |
19 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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