NA10964
DNA from Smooth muscle
Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Leiomyoma
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Cell Type
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Smooth muscle
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Tissue Type
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Uterine muscle
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Transformant
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Untransformed
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Sample Source
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DNA from Smooth muscle
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Relation to Proband
|
proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX,t(12;14)(q15;q24)[23].arr(1-22,X)x2
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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 |
7.1 |
Passage Frozen |
6 |
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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 12q14 |
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Chromosome 12: TRANSLOCATION Breakpoint 12q14 t(12;14)12q14 |
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Chromosome 12: TRANSLOCATION Breakpoint 12q15 |
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Chromosome 12: TRANSLOCATION Breakpoint 12q15 t(12;14)12q15 |
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Chromosome 14: TRANSLOCATION Breakpoint 14q23 |
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Chromosome 14: TRANSLOCATION Breakpoint 14q23 t(12;14)14q23 |
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Chromosome 14: TRANSLOCATION Breakpoint 14q24 |
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Chromosome 14: TRANSLOCATION Breakpoint 14q24 t(12;14)14q24 |
Remarks |
Leiomyoma; large pelvic mass adjacent to ovary but felt to be of uterine origin; culture established from tumor; FISH with lambda clones from HMGI-C locus indicates t(12;14) breakpoint is approximately 10kb upstream of exon 1 of HMGI-C on chromosome 12; this cell line will be shipped frozen |
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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Di X, Andrews DM, Tucker CJ, Yu L, Moore AB, Zheng X, Castro L, Hermon T, Xiao H, Dixon D, A high concentration of genistein down-regulates activin A, Smad3 and other TGF-ß pathway genes in human uterine leiomyoma cells Experimental & molecular medicine44:281-92 2012 |
PubMed ID: 22228119 |
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Moore AB, Yu L, Swartz CD, Zheng X, Wang L, Castro L, Kissling GE, Walmer DK, Robboy SJ, Dixon D, Human uterine leiomyoma-derived fibroblasts stimulate uterine leiomyoma cell proliferation and collagen type I production, and activate RTKs and TGF beta receptor signaling in coculture Cell communication and signaling : CCS8:10 2010 |
PubMed ID: 20537183 |
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Gao X, Yu L, Castro L, Moore AB, Hermon T, Bortner C, Sifre M, Dixon D, An endocrine-disrupting chemical, fenvalerate, induces cell cycle progression and collagen type I expression in human uterine leiomyoma and myometrial cells Toxicology letters196:133-41 2009 |
PubMed ID: 20230880 |
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Di X, Yu L, Moore AB, Castro L, Zheng X, Hermon T, Dixon D, A low concentration of genistein induces estrogen receptor-alpha and insulin-like growth factor-I receptor interactions and proliferation in uterine leiomyoma cells Human reproduction (Oxford, England)196:133-41 2008 |
PubMed ID: 18492705 |
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Moore AB, Castro L, Yu L, Zheng X, Di X, Sifre MI, Kissling GE, Newbold RR, Bortner CD, Dixon D, Stimulatory and inhibitory effects of genistein on human uterine leiomyoma cell proliferation are influenced by the concentration Human Reproduction196:1-9 2007 |
PubMed ID: 17725991 |
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Swartz CD, Afshari CA, Yu L, Hall KE, Dixon D, Estrogen-induced changes in IGF-I, Myb family and MAP kinase pathway genes in human uterine leiomyoma and normal uterine smooth muscle cell lines Molecular human reproduction11:441-50 2005 |
PubMed ID: 15879465 |
|
Carney SA, Tahara H, Swartz CD, Risinger JI, He H, Moore AB, Haseman JK, Barrett JC, Dixon D, Immortalization of human uterine leiomyoma and myometrial cell lines after induction of telomerase activity: molecular and phenotypic characteristics. Lab Invest82(6):719-28 2002 |
PubMed ID: 12065682 |
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Gisselsson D, Pettersson L, Hoglund M, Heidenblad M, Gorunova L, Wiegant J, Mertens F, Dal Cin P, Mitelman F, Mandahl N, Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity. Proc Natl Acad Sci U S A97:5357-62 2000 |
PubMed ID: 10805796 |
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Lynch RA, Piper M, Bankier A, Bhugra B, Surti U, Liu J, Buckler A, Dear PH, Menon AG, Genomic and functional map of the chromosome 14 t(12;14) breakpoint cluster region in uterine leiomyoma [In Process Citation] Genomics52:17-26 1998 |
PubMed ID: 9740667 |
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