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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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;7)(Xpter>Xq21::7p22>7pter; 7qter>7p22::Xq21>Xqter)
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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 |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 7: TRANSLOCATION Breakpoint 7p22 t(X;7)7p22 |
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Chromosome X: TRANSLOCATION Breakpoint Xq21 t(X;7)Xq21 |
| Remarks |
Secondary amenorrhea; phenotypically normal; G6PD type B; normal X is late replicating; slow growing culture |
| 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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| 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 |
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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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| Vortkamp A, Thias U, Gessler M, Rosenkranz W, Kroisel PM, Tommerup N, Kruger G, Gotz J, Pelz L, Grzeschik KH, A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p. Genomics11:737-43 1991 |
| PubMed ID: 1663489 |
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| Taira M, Kudoh J, Minoshima S, Iizasa T, Shimada H, Shimizu Y, Tatibana M, Shimizu N, Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes. Somat Cell Mol Genet15:29-37 1989 |
| PubMed ID: 2536962 |
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| Sekiguchi T, Yoshida MC, Sekiguchi M, Nishimoto T, Isolation of a human X chromosome-linked gene essential for progression from G1 to S phase of the cell cycle. Exp Cell Res169:395-407 1987 |
| PubMed ID: 3556424 |
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| Fojo A, Lebo R, Shimizu N, Chin JE, Roninson IB, Merlino GT, Gottesman MM, Pastan I, Localization of multidrug resistance-associated DNA sequences to human chromosome 7. Somat Cell Mol Genet12:415-20 1986 |
| PubMed ID: 3016920 |
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| Sparkes RS, Mohandas T, Sparkes MC, The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis. Cytogenet Cell Genet35:70-1 1983 |
| PubMed ID: 6297855 |
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| Behzadian MA, Shimizu Y, Kondo I, Shimizu N, Genetics of receptors for bioactive polypeptides: expression of the human EGF receptor gene and internalization and processing of the receptor-bound EGF in human-mouse cell hybrids. Somatic Cell Genet8:347-62 1982 |
| PubMed ID: 6287655 |
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| Shimizu, Mapping of the genes for receptors for bioactive polypeptides: The genes for the EGF, insulin, and MSA receptors are not syntenic. Cytogenet Cell Genet32:316 (1982):347-62 1982 |
| PubMed ID: 6287655 |
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| Koch G, Lalley PA, McAvoy M, Shows TB, Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19. Somatic Cell Genet7:345-58 1981 |
| PubMed ID: 7292252 |
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| Naylor SL, Shows TB, Branched-chain aminotransferase deficiency in Chinese hamster cells complemented by two independent genes on human chromosomes 12 and 19. Somatic Cell Genet6:641-52 1980 |
| PubMed ID: 6933702 |
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| Shimizu N, Behzadian MA, Shimizu Y, Genetics of cell surface receptors for bioactive polypeptides: binding of epidermal growth factor is associated with the presence of human chromosome 7 in human-mouse cell hybrids. Proc Natl Acad Sci U S A77:3600-4 1980 |
| PubMed ID: 6968072 |
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| Sauer F, Greenstein RM, Reardon P, Riddick DH, Secondary amenorrhea associated with balanced X-autosome translocation. Obstet Gynecol49:101-4 1977 |
| PubMed ID: 831158 |
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| Chan TS, Reardon MP, Greenstein RM, Somatic cell hybrid assignment of a structural gene for human beta- glucuronidase to chromosome 7 by use of an X/7 translocation. Cytogenet Cell Genet17:291-5 1976 |
| PubMed ID: 1017320 |
| Passage Frozen |
9 |
| 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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