Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,X,t(X;19)(Xpter>Xq22::19q13.3>19qter; 19pter>19q13.3::Xq22>Xqter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 19: TRANSLOCATION Breakpoint 19q13 t(X;19)19q13 |
|
Chromosome X: TRANSLOCATION Breakpoint Xq22 t(X;19)Xq22 |
| Remarks |
Normal X is late replicating |
| 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 |
| |
| 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 |
| |
| Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, et al, Deficient expression of a B cell cytoplasmic tyrosine kinase in human X- linked agammaglobulinemia. Cell72:279-90 1993 |
| PubMed ID: 8425221 |
| |
| Couillin P, Mollicone R, Grisard MC, Gibaud A, Ravise N, Feingold J, Oriol R, Chromosome 11q localization of one of the three expected genes for the human alpha-3-fucosyltransferases, by somatic hybridization. Cytogenet Cell Genet56:108-11 1991 |
| PubMed ID: 1672847 |
| |
| Schonk D, van Dijk P, Riegmann P, Trapman J, Holm C, Willcocks TC, Sillekens P, van Venrooij W, Wimmer E, Geurts van Kessel A, et al, Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region. Cytogenet Cell Genet54:15-9 1990 |
| PubMed ID: 1701111 |
| |
| Smeets H, Bachinski L, Coerwinkel M, Schepens J, Hoeijmakers J, van Duin M, Grzeschik KH, Weber CA, de Jong P, Siciliano MJ, et al, A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. Am J Hum Genet46:492-501 1990 |
| PubMed ID: 2309701 |
| |
| Holm C, Kirchgessner TG, Svenson KL, Fredrikson G, Nilsson S, Miller CG, Shively JE, Heinzmann C, Sparkes RS, Mohandas T, et al, Hormone-sensitive lipase: sequence, expression, and chromosomal localization to 19 cent-q13.3. Science241:1503-6 1988 |
| PubMed ID: 3420405 |
| |
| Arveiler B, Oberle I, Mandel JL, Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome. Genomics1:60-6 1987 |
| PubMed ID: 2889662 |
| |
| 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 |
| |
| Oberle I, Camerino G, Wrogemann K, Arveiler B, Hanauer A, Raimondi E, Mandel JL, Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27. Hum Genet77:60-5 1987 |
| PubMed ID: 3502701 |
| |
| 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 |
| |
| Dracopoli NC, Rettig WJ, Albino AP, Esposito D, Archidiacono N, Rocchi M, Siniscalco M, Old LJ, Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am J Hum Genet37:199-207 1985 |
| PubMed ID: 4038849 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| Mohandas T, Sparkes RS, Hellkuhl B, Grzeschik KH, Shapiro LJ, Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc Natl Acad Sci U S A77:6759-63 1980 |
| PubMed ID: 6935682 |
| |
| 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 |
| Passage Frozen |
5 |
| 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 |
- |
|