NA00017
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
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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Black/African American
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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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45,XY,der(15;18)t(15;18)(q11.2;q21.1).arr 2p13.1(73993265-74099962)x3,18q21.1q23(63877945-76116029)x1
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment (-)15pter>15q13 |
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Chromosome 18: DERIVATIVE CHROMOSOME Aneuploid Segment (-)18q23>18qter |
| Remarks |
Multiple congenital anomalies and mental retardation |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| 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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| Sehgal PB, Zilberstein A, Ruggieri RM, May LT, Ferguson-Smith A, Slate DL, Revel M, Ruddle FH, Human chromosome 7 carries the beta 2 interferon gene. Proc Natl Acad Sci U S A83:5219-22 1986 |
| PubMed ID: 3014537 |
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| Shulman LM, Barker PE, Hart JT, Messer Peters PG, Ruddle FH, Assignment of low-molecular-weight human (2', 5')A synthetase to chromosome 11. Somat Cell Mol Genet10:247-57 1984 |
| PubMed ID: 6585970 |
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| Mellman IS, Lin PF, Ruddle FH, Rosenberg LE, Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S- methyltransferase to human chromosome 1. Proc Natl Acad Sci U S A76:405-9 1979 |
| PubMed ID: 284356 |
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| Slate DL, Ruddle FH, Fibroblast interferon in man is coded by two loci on separate chromosomes. Cell16:171-80 1979 |
| PubMed ID: 84714 |
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| Deisseroth A, Nienhuis A, Lawrence J, Giles R, Turner P, Ruddle FH, Chromosomal localization of human beta globin gene on human chromosome 11 in somatic cell hybrids. Proc Natl Acad Sci U S A75:1456-60 1978 |
| PubMed ID: 274732 |
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| Sundar Raj CV, Church RL, Klobutcher LA, Ruddle FH, Genetics of the connective tissue proteins: assignment of the gene for human type I procollagen to chromosome 17 by analysis of cell hybrids and microcell hybrids. Proc Natl Acad Sci U S A74:4444-8 1977 |
| PubMed ID: 412188 |
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| Willecke K, Teber T, Kucherlapati RS, Ruddle FH, Human mitochondrial thymidine kinase is coded for by a gene on chromosome 16 of the nucleus. Somatic Cell Genet3:237-45 1977 |
| PubMed ID: 605384 |
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| Faber HE, Kucherlapati RS, Poulik MD, Ruddle FH, Smithies O, beta2-microglobulin locus on human chromosome 15. Somatic Cell Genet2:141-53 1976 |
| PubMed ID: 69326 |
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| Gilbert F, Kucherlapati R, Creagan RP, Murnane MJ, Darlington GJ, Ruddle FH, Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. Proc Natl Acad Sci U S A72:263-7 1975 |
| PubMed ID: 1054503 |
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| Gilbert F, Kucherlapati R, Creagan RP, Murnane MJ, Darlington GJ, Ruddle FH, A (15;18) translocation, unbalanced, 45 chromosomes. Human Genetic Mutant Cell Repository, Camden, N.J., identification No. GM-17. Cytogenet Cell Genet12:370-1 1973 |
| PubMed ID: 4780773 |
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