NA02621
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP
dbGaP |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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;12)(Xpter>Xq22::12q24>12qter; 12pter>12q24::Xq22>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 |
12 |
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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 12: TRANSLOCATION Breakpoint 12q24 t(X;12)12q24 |
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Chromosome X: TRANSLOCATION Breakpoint Xq22 t(X;12)Xq22 |
| Remarks |
Gonadal dysgenesis; positive for H-Y antigen; in blood leukocytes and fibroblasts the normal X chromosome was late replicating; elevated gonadotropins; bicornuate uterus; axillary and pubic hair; renal abnormalities |
| 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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| 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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| Lebo RV, Golbus MS, Cheung MC, Detecting abnormal human chromosome constitutions by dual laser flow cytogenetics. Am J Med Genet25:519-29 1986 |
| PubMed ID: 2431619 |
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| Yen PH, Marsh B, Mohandas TK, Shapiro LJ, Isolation of genomic clones homologous to transcribed sequences from human X chromosome. Somat Cell Mol Genet10:561-71 1984 |
| PubMed ID: 6594767 |
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| Haseltine FP, Lynch VA, Van Dyke DL, Breg WR, Francke U, H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis. Am J Med Genet13:115-23 1982 |
| PubMed ID: 7137226 |
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| Van Dyke, Replication studies in X chromosome abnormalities. Am J Hum Genet29:109A (1977):115-23 1977 |
| PubMed ID: 7137226 |
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