NA04626
DNA from Fibroblast
Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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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 |
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Biopsy Source
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Buttock
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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47,XXX[20]
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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 |
5.8 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Cytogenetics |
Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter |
| Remarks |
Abortus; clinically normal phenotype; initial chromosome analysis of 47,XXX on amniotic fluid and lymphoblast cell cultures; fibroblast culture verified to have same karyotype via in-house testing. |
| García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11: 2020 |
| PubMed ID: 32610655 |
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| Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019 |
| PubMed ID: 31747614 |
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| Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LCA, Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform European journal of medical genetics62:103647 2019 |
| PubMed ID: 31026593 |
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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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| Treff NR, Su J, Tao X, Northrop LE, Scott RT, Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses Molecular human reproduction17:335-43 2010 |
| PubMed ID: 21177337 |
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| Yim SH, Chung YJ, Jin EH, Shim SC, Kim JY, Kim YS, Hu HJ, Shin SH, Pae HO, Zouali M, Chung HT, The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis Molecular immunology48:1338-43 2010 |
| PubMed ID: 21144590 |
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| Hostetter G, Kim SY, Savage S, Gooden GC, Barrett M, Zhang J, Alla L, Watanabe A, Einspahr J, Prasad A, Nickoloff BJ, Carpten J, Trent J, Alberts D, Bittner M, Random DNA fragmentation allows detection of single-copy, single-exon alterations of copy number by oligonucleotide array CGH in clinical FFPE samples Nucleic acids research38:e9 2009 |
| PubMed ID: 19875416 |
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| Treff NR, Su J, Tao X, Levy B, Scott RT, Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays Fertility and sterility94:2017-21 2009 |
| PubMed ID: 20188357 |
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| Isaksson M, Stenberg J, Dahl F, Thuresson AC, Bondeson ML, Nilsson M, MLGA--a rapid and cost-efficient assay for gene copy-number analysis Nucleic acids research35:e115 2007 |
| PubMed ID: 17823203 |
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| Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL, High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping Genome research16:1136-48 2006 |
| PubMed ID: 16899659 |
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| Warshawsky I, Chernova OB, Hübner CA, Stindl R, Henneke M, Gal A, Natowicz MR, Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease Clinical chemistry52:1267-75 2006 |
| PubMed ID: 16644873 |
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| Garcia MJ, Pole JC, Chin SF, Teschendorff A, Naderi A, Ozdag H, Vias M, Kranjac T, Subkhankulova T, Paish C, Ellis I, Brenton JD, Edwards PA, Caldas C, A 1 Mb minimal amplicon at 8p11-12 in breast cancer identifies new candidate oncogenes Oncogene24:5235-45 2005 |
| PubMed ID: 15897872 |
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| Wang Y, Moorhead M, Karlin-Neumann G, Falkowski M, Chen C, Siddiqui F, Davis RW, Willis TD, Faham M, Allele quantification using molecular inversion probes (MIP) Nucleic acids research33:e183 2005 |
| PubMed ID: 16314297 |
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| Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S, Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci U S A101(51):17765-70 2004 |
| PubMed ID: 15591353 |
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| Bignell GR, Huang J, Greshock J, Watt S, Butler A, West S, Grigorova M, Jones KW, Wei W, Stratton MR, Futreal PA, Weber B, Shapero MH, Wooster R, High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res14(2):287-95 2004 |
| PubMed ID: 14762065 |
| |
| Ensminger AW, Chess A, Coordinated replication timing of monoallelically expressed genes along human autosomes. Hum Mol Genet13(6):651-8 2004 |
| PubMed ID: 14734625 |
| |
| Ota A, Tagawa H, Karnan S, Tsuzuki S, Karpas A, Kira S, Yoshida Y, Seto M, Identification and characterization of a novel gene, C13orf25, as a target for 13q31-q32 amplification in malignant lymphoma. Cancer Res64(9):3087-95 2004 |
| PubMed ID: 15126345 |
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| Zhao X, Li C, Paez JG, Chin K, Janne PA, Chen TH, Girard L, Minna J, Christiani D, Leo C, Gray JW, Sellers WR, Meyerson M, An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res64(9):3060-71 2004 |
| PubMed ID: 15126342 |
| |
| Lage JM, Leamon JH, Pejovic T, Hamann S, Lacey M, Dillon D, Segraves R,
Vossbrinck B, Gonzalez A, Pinkel D, Albertson DG, Costa J, Lizardi PM, Whole genome analysis of genetic alterations in small DNA samples using
hyperbranched strand displacement amplification and array-CGH. Genome Res13(2):294-307 2003 |
| PubMed ID: 12566408 |
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| Chadwick BP, Valley CM, Willard HF., Histone variant macroH2A contains two distinct macrochromatin domains capable of directing macroH2A to the inactive X chromosome. Nucleic Acids Res.29(13):2699-705 2001 |
| PubMed ID: 11433014 |
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| Chadwick BP, Willard HF., A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome. J Cell Biol.152(2):375-84 2001 |
| PubMed ID: 11266453 |
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| Chadwick BP1, Willard HF., Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant. Hum Mol Genet.10(10):1101-13 2001 |
| PubMed ID: 11331621 |
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| Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG, High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet20:207-11 1998 |
| PubMed ID: 9771718 |
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| Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D, Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science258:818-21 1992 |
| PubMed ID: 1359641 |
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| Trask B, van den Engh G, Nussbaum R, Schwartz C, Gray J., Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping. Cytometry11(1):184-95 1990 |
| PubMed ID: 2106419 |
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| Zacksenhaus E, Sheinin R, Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication. EMBO J9:2923-9 1990 |
| PubMed ID: 2390975 |
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